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

Basic Information

Gene ID

4088

Name

SMAD3

Synonymous

HSPC193|HsT17436|JV15-2|LDS1C|LDS3|MADH3;SMAD family member 3;SMAD3;SMAD family member 3

Definition

MAD homolog 3|MAD, mothers against decapentaplegic homolog 3|SMA- and MAD-related protein 3|SMAD, mothers against DPP homolog 3|hMAD-3|hSMAD3|mad homolog JV15-2|mad protein homolog|mad3|mothers against DPP homolog 3|mothers against decapentaplegic homolog

Position

15q22.33

Gene Type

protein-coding

Gene Mutation:

GWAS results
PAH samples
Lung cancer

GWAS results   [Top]

There is no record for SMAD3

Lung cancer   [Top]

Mutation (Type; AA; Chr)

Site

Histology

p.L411F; chr15:67482827-67482827

lungadenocarcinoma; carcinoma

p.V77V; chr15:67457257-67457257

lungadenocarcinoma; carcinoma

p.H289P; chr15:67473786-67473786

lungadenocarcinoma; carcinoma

p.R243C; chr15:67473647-67473647

lungadenocarcinoma; carcinoma

p.I87I; chr15:67457287-67457287

lungsquamous_cell_carcinoma; carcinoma

p.R268H; chr15:67473723-67473723

lungadenocarcinoma; carcinoma

p.K341N; chr15:67479716-67479716

lungsquamous_cell_carcinoma; carcinoma

p.?; chr15:67482744-67482744

lungsquamous_cell_carcinoma; carcinoma

p.F7F; chr15:67358513-67358513

lungsquamous_cell_carcinoma; carcinoma

p.P253S; chr15:67473677-67473677

lungadenocarcinoma; carcinoma

p.E239E; chr15:67473637-67473637

lungadenocarcinoma; carcinoma


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