Pulmonary Arterial Hypertension KnowledgeBase (PAHKB)
PAHKB
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

775

Name

CACNA1C

Synonymous

CACH2|CACN2|CACNL1A1|CCHL1A1|CaV1.2|LQT8|TS;calcium channel, voltage-dependent, L type, alpha 1C subunit;CACNA1C;calcium channel, voltage-dependent, L type, alpha 1C subunit

Definition

DHPR, alpha-1 subunit|calcium channel, L type, alpha-1 polypeptide, isoform 1, cardiac muscle|calcium channel, cardic dihydropyridine-sensitive, alpha-1 subunit|voltage-dependent L-type calcium channel subunit alpha-1C|voltage-gated L-type calcium channel

Position

12p13.3

Gene Type

protein-coding

Gene Mutation:

GWAS results
PAH samples
Lung cancer

GWAS results   [Top]

There is no record for CACNA1C

Lung cancer   [Top]

Mutation (Type; AA; Chr)

Site

Histology

p.M383T; chr12:2602497-2602497

lungadenocarcinoma; carcinoma

p.A2010D; chr12:2795341-2795341

lungadenocarcinoma; carcinoma

p.A1246A; chr12:2719736-2719736

lungadenocarcinoma; carcinoma

p.P155Q; chr12:2229493-2229493

lungadenocarcinoma; carcinoma

p.S893F; chr12:2702436-2702436

lungadenocarcinoma; carcinoma

p.E1763Q; chr12:2786995-2786995

lungsquamous_cell_carcinoma; carcinoma

p.Q713H; chr12:2690909-2690909

lungsmall_cell_carcinoma; carcinoma

p.T633T; chr12:2676874-2676874

lungadenocarcinoma; carcinoma

p.S2028T; chr12:2795394-2795394

lungadenocarcinoma; carcinoma

p.P2113H; chr12:2797827-2797827

lungsquamous_cell_carcinoma; carcinoma

p.D463N; chr12:2622057-2622057

lungadenocarcinoma; carcinoma

p.F1276F; chr12:2719826-2719826

lungadenocarcinoma; carcinoma

p.G51A; chr12:2224402-2224402

lungadenocarcinoma; carcinoma

p.V1827V; chr12:2788765-2788765

lungadenocarcinoma; carcinoma

p.V1072E; chr12:2714861-2714861

lungadenocarcinoma; carcinoma

p.G255*; chr12:2566788-2566788

lungadenocarcinoma; carcinoma

p.H1570Q; chr12:2774824-2774824

lungadenocarcinoma; carcinoma

p.G280R; chr12:2566863-2566863

lungadenocarcinoma; carcinoma

p.G2114D; chr12:2797830-2797830

lungadenocarcinoma; carcinoma

p.L2251P; chr12:2800361-2800361

lungadenocarcinoma; carcinoma

p.Y2247D; chr12:2800348-2800348

lungsquamous_cell_carcinoma; carcinoma

p.L631L; chr12:2676868-2676868

lungsquamous_cell_carcinoma; carcinoma

p.K1324K; chr12:2721173-2721173

lungsquamous_cell_carcinoma; carcinoma

p.P364P; chr12:2602441-2602441

lungsquamous_cell_carcinoma; carcinoma

p.P364P; chr12:2602441-2602441

lungsquamous_cell_carcinoma; carcinoma

p.M1207I; chr12:2717791-2717791

lungadenocarcinoma; carcinoma

p.G704E; chr12:2690881-2690881

lungadenocarcinoma; carcinoma

p.G422G; chr12:2614070-2614070

lungadenocarcinoma; carcinoma

p.R2019R; chr12:2795367-2795367

lungadenocarcinoma; carcinoma

p.Q1715K; chr12:2786340-2786340

lungadenocarcinoma; carcinoma

p.S1790R; chr12:2788654-2788654

lungsquamous_cell_carcinoma; carcinoma

p.L1408M; chr12:2760848-2760848

lungsmall_cell_carcinoma; carcinoma

p.G117W; chr12:2224599-2224599

lungadenocarcinoma; carcinoma

p.V1083L; chr12:2714893-2714893

lungadenocarcinoma; carcinoma

p.S2055R; chr12:2797654-2797654

lungadenocarcinoma; carcinoma

p.L649L; chr12:2676922-2676922

lungsquamous_cell_carcinoma; carcinoma

p.E819*; chr12:2694567-2694567

lungsquamous_cell_carcinoma; carcinoma

p.R129C; chr12:2224635-2224635

lungsquamous_cell_carcinoma; carcinoma

p.A259D; chr12:2566801-2566801

lungadenocarcinoma; carcinoma

p.A1852A; chr12:2788840-2788840

lungadenocarcinoma; carcinoma

p.K531N; chr12:2666138-2666138

lungadenocarcinoma; carcinoma

p.?; chr12:2778097-2778097

lungadenocarcinoma; carcinoma

p.L895F; chr12:2702441-2702441

lungsquamous_cell_carcinoma; carcinoma

p.E801D; chr12:2693757-2693757

lungsquamous_cell_carcinoma; carcinoma

p.P1857H; chr12:2788854-2788854

lungsquamous_cell_carcinoma; carcinoma

p.P1584S; chr12:2774864-2774864

lungsquamous_cell_carcinoma; carcinoma

p.P1604P; chr12:2775903-2775903

lungsquamous_cell_carcinoma; carcinoma

p.Y1705*; chr12:2786312-2786312

lungadenocarcinoma; carcinoma

p.S2237R; chr12:2800320-2800320

lungadenocarcinoma; carcinoma

p.T930M; chr12:2705075-2705075

lungadenocarcinoma; carcinoma

p.E2240Q; chr12:2800327-2800327

lungsquamous_cell_carcinoma; carcinoma

p.A1322A; chr12:2721167-2721167

lungsquamous_cell_carcinoma; carcinoma

p.L610M; chr12:2676803-2676803

lungadenocarcinoma; carcinoma

p.T327T; chr12:2595403-2595403

lungadenocarcinoma; carcinoma

p.T1646K; chr12:2778178-2778178

lungsmall_cell_carcinoma; carcinoma

p.I1471I; chr12:2764351-2764351

lungadenocarcinoma; carcinoma

p.H1570H; chr12:2774824-2774824

lungadenocarcinoma; carcinoma

p.W536C; chr12:2675597-2675597

lungadenocarcinoma; carcinoma

p.?; chr12:2621976-2621976

lungadenocarcinoma; carcinoma

p.P131P; chr12:2224643-2224643

lungsquamous_cell_carcinoma; carcinoma

p.S2055R; chr12:2797654-2797654

lungadenocarcinoma; carcinoma

p.R455R; chr12:2622035-2622035

lungadenocarcinoma; carcinoma

p.A1642S; chr12:2778165-2778165

lungsquamous_cell_carcinoma; carcinoma

p.F1431L; chr12:2760919-2760919

lungadenocarcinoma; carcinoma

p.D409N; chr12:2614029-2614029

lungadenocarcinoma; carcinoma

p.L1318M; chr12:2721153-2721153

lungadenocarcinoma; carcinoma

p.L2001L; chr12:2794992-2794992

lungadenocarcinoma; carcinoma

p.V308A; chr12:2595345-2595345

lungadenocarcinoma; carcinoma

p.R925C; chr12:2705059-2705059

lungadenocarcinoma; carcinoma

p.G255R; chr12:2566788-2566788

lungadenocarcinoma; carcinoma

p.G422W; chr12:2614068-2614068

lungadenocarcinoma; carcinoma

p.M1539K; chr12:2774140-2774140

lungsquamous_cell_carcinoma; carcinoma

p.T598M; chr12:2676768-2676768

lungsquamous_cell_carcinoma; carcinoma

p.F269F; chr12:2566832-2566832

lungadenocarcinoma; carcinoma

p.H1570N; chr12:2774822-2774822

lungadenocarcinoma; carcinoma

p.M1393L; chr12:2757671-2757671

lungsquamous_cell_carcinoma; carcinoma

p.?; chr12:2566724-2566724

lungsquamous_cell_carcinoma; carcinoma

p.H1258N; chr12:2719770-2719770

lungadenocarcinoma; carcinoma

p.S182S; chr12:2229575-2229575

lungadenocarcinoma; carcinoma

p.R1054M; chr12:2714297-2714297

lungadenocarcinoma; carcinoma

p.D1988D; chr12:2794953-2794953

lungadenocarcinoma; carcinoma

p.I1299I; chr12:2721098-2721098

lungadenocarcinoma; carcinoma

p.G745W; chr12:2692027-2692027

lungsquamous_cell_carcinoma; carcinoma

p.A795D; chr12:2693738-2693738

lungsquamous_cell_carcinoma; carcinoma

p.T872N; chr12:2695065-2695065

lungadenocarcinoma; carcinoma

p.Q1975L; chr12:2794913-2794913

lungadenocarcinoma; carcinoma

p.G1371G; chr12:2743513-2743513

lungadenocarcinoma; carcinoma

p.Q1458Q; chr12:2763066-2763066

lungadenocarcinoma; carcinoma

p.?; chr12:2706461-2706461

lungsquamous_cell_carcinoma; carcinoma

p.P1721H; chr12:2786359-2786359

lungsmall_cell_carcinoma; carcinoma


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