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

Basic Information

Gene ID

657

Name

BMPR1A

Synonymous

10q23del|ACVRLK3|ALK3|CD292|SKR5;bone morphogenetic protein receptor, type IA;BMPR1A;bone morphogenetic protein receptor, type IA

Definition

ALK-3|BMP type-1A receptor|BMPR-1A|activin A receptor, type II-like kinase 3|activin receptor-like kinase 3|bone morphogenetic protein receptor type-1A|serine/threonine-protein kinase receptor R5

Position

10q22.3

Gene Type

protein-coding

Gene Mutation:

GWAS results
PAH samples
Lung cancer

GWAS results   [Top]

There is no record for BMPR1A

Lung cancer   [Top]

Mutation (Type; AA; Chr)

Site

Histology

p.M167I; chr10:88659854-88659854

lungadenocarcinoma; carcinoma

p.S510S; chr10:88683407-88683407

lungadenocarcinoma; carcinoma

p.T520M; chr10:88683436-88683436

lungadenocarcinoma; carcinoma

p.N392S; chr10:88681285-88681285

lungsmall_cell_carcinoma; carcinoma

p.D196V; chr10:88672053-88672053

lungsquamous_cell_carcinoma; carcinoma

p.T95T; chr10:88651938-88651938

lungadenocarcinoma; carcinoma

p.F58Y; chr10:88649924-88649924

lungsquamous_cell_carcinoma; carcinoma

p.F58Y; chr10:88649924-88649924

lungsquamous_cell_carcinoma; carcinoma

p.S270S; chr10:88677025-88677025

lungadenocarcinoma; carcinoma

p.N392S; chr10:88681285-88681285

lungsmall_cell_carcinoma; carcinoma

p.S510S; chr10:88683407-88683407

lungadenocarcinoma; carcinoma

p.D196V; chr10:88672053-88672053

lungsquamous_cell_carcinoma; carcinoma

p.G447A; chr10:88681450-88681450

lungsmall_cell_carcinoma; carcinoma

p.I426V; chr10:88681386-88681386

lungadenocarcinoma; carcinoma

p.L118L; chr10:88659571-88659571

lungsmall_cell_carcinoma; carcinoma

p.G246R; chr10:88676951-88676951

lungsquamous_cell_carcinoma; carcinoma

p.G246R; chr10:88676951-88676951

lungsquamous_cell_carcinoma; carcinoma

p.I426V; chr10:88681386-88681386

lungadenocarcinoma; carcinoma

p.T95T; chr10:88651938-88651938

lungadenocarcinoma; carcinoma

p.L118L; chr10:88659571-88659571

lungsmall_cell_carcinoma; carcinoma

p.S270S; chr10:88677025-88677025

lungadenocarcinoma; carcinoma

p.?; chr10:88649982-88649982

lungsquamous_cell_carcinoma; carcinoma

p.G447A; chr10:88681450-88681450

lungsmall_cell_carcinoma; carcinoma

p.S527F; chr10:88683457-88683457

lungadenocarcinoma; carcinoma

p.S527F; chr10:88683457-88683457

lungadenocarcinoma; carcinoma


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