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

Basic Information

Gene ID

846

Name

CASR

Synonymous

CAR|EIG8|FHH|FIH|GPRC2A|HHC|HHC1|NSHPT|PCAR1;calcium-sensing receptor;CASR;calcium-sensing receptor

Definition

extracellular calcium-sensing receptor|parathyroid Ca(2+)-sensing receptor 1|parathyroid cell calcium-sensing receptor

Position

3q13

Gene Type

protein-coding

Gene Mutation:

GWAS results
PAH samples
Lung cancer

GWAS results   [Top]

Variant (Location; Chr; Position; SNP; Allele; Homogeneity)

Discovery Cohort (Cochran-Armitage Trend Test P-value; P-value from Eigenstrat; MAF cases; MAF controls)

Replication Cohort (Cochran-Armitage Trend Test P-value; MAF cases; MAF controls)

intron; chr3;123397547;rs6802749;G/A; + +

5.4375e10-4; 2.7651e10-4; 0.2074; 0.1510.7801; 0.1655; 0.1601

intron; chr3;123416851;rs4678126;A/G; + -

3.0154e10-4; 1.8122e10-4; 0.2044; 0.14620.9041; 0.1614; 0.1637

Lung cancer   [Top]

Mutation (Type; AA; Chr)

Site

Histology

p.R898Q; chr3:122003494-122003494

lungadenocarcinoma; carcinoma

p.G549W; chr3:122000996-122000996

lungsquamous_cell_carcinoma; carcinoma

p.D23N; chr3:121973103-121973103

lungsquamous_cell_carcinoma; carcinoma

p.P163S; chr3:121976229-121976229

lungsquamous_cell_carcinoma; carcinoma

p.R873C; chr3:122003418-122003418

lungsmall_cell_carcinoma; carcinoma

p.G509G; chr3:121994808-121994808

lungsmall_cell_carcinoma; carcinoma

p.E602D; chr3:122002607-122002607

lungadenocarcinoma; carcinoma

p.E399D; chr3:121981079-121981079

lungadenocarcinoma; carcinoma

p.A579T; chr3:122002536-122002536

lungadenocarcinoma; carcinoma

p.N700K; chr3:122002901-122002901

lungadenocarcinoma; carcinoma

p.I603T; chr3:122002609-122002609

lungsquamous_cell_carcinoma; carcinoma

p.E558*; chr3:122001023-122001023

lungadenocarcinoma; carcinoma

p.A194V; chr3:121980463-121980463

lungadenocarcinoma; carcinoma

p.?; chr3:121994653-121994653

lungadenocarcinoma; carcinoma

p.?; chr3:121981263-121981263

lungadenocarcinoma; carcinoma

p.N700K; chr3:122002901-122002901

lungadenocarcinoma; carcinoma

p.I33I; chr3:121973135-121973135

lungadenocarcinoma; carcinoma

p.S171G; chr3:121980393-121980393

lungsquamous_cell_carcinoma; carcinoma

p.A295S; chr3:121980765-121980765

lungadenocarcinoma; carcinoma

p.I614I; chr3:122002643-122002643

lungadenocarcinoma; carcinoma

p.R891P; chr3:122003473-122003473

lungsquamous_cell_carcinoma; carcinoma

p.R890R; chr3:122003471-122003471

lungsquamous_cell_carcinoma; carcinoma

p.D980H; chr3:122003739-122003739

lungsquamous_cell_carcinoma; carcinoma

p.R441fs*21; chr3:121981200-121981200

lungadenocarcinoma; carcinoma

p.P89P; chr3:121976009-121976009

lungadenocarcinoma; carcinoma

p.S244S; chr3:121980614-121980614

lungadenocarcinoma; carcinoma

p.L730L; chr3:122002991-122002991

lungadenocarcinoma; carcinoma

p.L730L; chr3:122002991-122002991

lungadenocarcinoma; carcinoma

p.R69H; chr3:121975948-121975948

lungsquamous_cell_carcinoma; carcinoma

p.G363C; chr3:121980969-121980969

lungadenocarcinoma; carcinoma

p.L87I; chr3:121976001-121976001

lungadenocarcinoma; carcinoma

p.Q1017L; chr3:122003851-122003851

lungadenocarcinoma; carcinoma

p.L443I; chr3:121981209-121981209

lungadenocarcinoma; carcinoma

p.L902V; chr3:122003505-122003505

lungsquamous_cell_carcinoma; carcinoma

p.N1077D; chr3:122004030-122004030

lungadenocarcinoma; carcinoma

p.L1032R; chr3:122003896-122003896

lungadenocarcinoma; carcinoma

p.T406>?; chr3:121981100-121981101

lungadenocarcinoma; carcinoma

p.A772A; chr3:122003117-122003117

lungadenocarcinoma; carcinoma

p.G613W; chr3:122002638-122002638

lungsquamous_cell_carcinoma; carcinoma

p.A887V; chr3:122003461-122003461

lungsmall_cell_carcinoma; carcinoma

p.E870E; chr3:122003411-122003411

lungadenocarcinoma; carcinoma

p.V1056M; chr3:122003967-122003967

lungadenocarcinoma; carcinoma

p.A321T; chr3:121980843-121980843

lungadenocarcinoma; carcinoma

p.T92M; chr3:121976017-121976017

lungadenocarcinoma; carcinoma

p.L770I; chr3:122003109-122003109

lungadenocarcinoma; carcinoma

p.L770I; chr3:122003109-122003109

lungadenocarcinoma; carcinoma

p.R340S; chr3:121980902-121980902

lungadenocarcinoma; carcinoma

p.R891L; chr3:122003473-122003473

lungadenocarcinoma; carcinoma

p.F183Y; chr3:121980430-121980430

lungsquamous_cell_carcinoma; carcinoma

p.S247Y; chr3:121980622-121980622

lungadenocarcinoma; carcinoma

p.S1061N; chr3:122003983-122003983

lungadenocarcinoma; carcinoma

p.A887G; chr3:122003461-122003461

lungadenocarcinoma; carcinoma

p.D199H; chr3:121980477-121980477

lungsmall_cell_carcinoma; carcinoma

p.T1026T; chr3:122003879-122003879

lungadenocarcinoma; carcinoma

p.L696L; chr3:122002887-122002887

lungadenocarcinoma; carcinoma

p.N176N; chr3:121980410-121980410

lungsquamous_cell_carcinoma; carcinoma

p.R961K; chr3:122003683-122003683

lungadenocarcinoma; carcinoma

p.R227Q; chr3:121980562-121980562

lungadenocarcinoma; carcinoma

p.R891G; chr3:122003472-122003472

lungsquamous_cell_carcinoma; carcinoma

p.R898R; chr3:122003495-122003495

lungsquamous_cell_carcinoma; carcinoma

p.E350V; chr3:121980931-121980931

lungsquamous_cell_carcinoma; carcinoma


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