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

Basic Information

Gene ID

4086

Name

SMAD1

Synonymous

BSP-1|BSP1|JV4-1|JV41|MADH1|MADR1;SMAD family member 1;SMAD1;SMAD family member 1

Definition

MAD homolog 1|MAD, mothers against decapentaplegic homolog 1|Mad-related protein 1|SMAD, mothers against DPP homolog 1|TGF-beta signaling protein 1|mothers against DPP homolog 1|mothers against decapentaplegic homolog 1|transforming growth factor-beta sig

Position

4q31

Gene Type

protein-coding

Gene Mutation:

GWAS results
PAH samples
Lung cancer

GWAS results   [Top]

There is no record for SMAD1

Lung cancer   [Top]

Mutation (Type; AA; Chr)

Site

Histology

p.Q427Q; chr4:146478969-146478969

lungadenocarcinoma; carcinoma

p.?; chr4:146436166-146436166

lungsquamous_cell_carcinoma; carcinoma

p.S190T; chr4:146461124-146461124

lungsquamous_cell_carcinoma; carcinoma

p.P443P; chr4:146479017-146479017

lungsquamous_cell_carcinoma; carcinoma

p.?; chr4:146467854-146467854

lungsmall_cell_carcinoma; carcinoma

p.L55F; chr4:146435930-146435930

lungadenocarcinoma; carcinoma

p.L440V; chr4:146479006-146479006

lungsquamous_cell_carcinoma; carcinoma

p.P183L; chr4:146461103-146461103

lungadenocarcinoma; carcinoma

p.G442C; chr4:146479012-146479012

lungadenocarcinoma; carcinoma

p.R257K; chr4:146463845-146463845

lungadenocarcinoma; carcinoma

p.G82A; chr4:146436010-146436010

lungadenocarcinoma; carcinoma

p.V275V; chr4:146467904-146467904

lungadenocarcinoma; carcinoma

p.?; chr4:146467854-146467854

lungadenocarcinoma; carcinoma


')