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

Basic Information

Gene ID

4089

Name

SMAD4

Synonymous

DPC4|JIP|MADH4|MYHRS;SMAD family member 4;SMAD4;SMAD family member 4

Definition

MAD homolog 4|SMAD, mothers against DPP homolog 4|deleted in pancreatic carcinoma locus 4|deletion target in pancreatic carcinoma 4|mothers against decapentaplegic homolog 4|mothers against decapentaplegic, Drosophila, homolog of, 4

Position

18q21.1

Gene Type

protein-coding

Gene Mutation:

GWAS results
PAH samples
Lung cancer

GWAS results   [Top]

There is no record for SMAD4

Lung cancer   [Top]

Mutation (Type; AA; Chr)

Site

Histology

p.V492F; chr18:48604652-48604652

lungadenocarcinoma; carcinoma

p.0?; chr18:48573417-48604837

lungnon_small_cell_carcinoma; carcinoma

p.Q289*; chr18:48584787-48584787

lungsquamous_cell_carcinoma; carcinoma

p.S144*; chr18:48575671-48575671

lungadenocarcinoma; carcinoma

p.G358*; chr18:48591909-48591909

lungadenocarcinoma; carcinoma

p.R361S; chr18:48591918-48591918

lungadenocarcinoma; carcinoma

p.?; chr18:48591792-48591792

lungadenocarcinoma; carcinoma

p.S144*; chr18:48575671-48575671

lungadenocarcinoma; carcinoma

p.R361H; chr18:48591919-48591919

lungadenocarcinoma; carcinoma

p.0?; chr18:48573417-48604837

lungnon_small_cell_carcinoma; carcinoma

p.Y276*; chr18:48584750-48584750

lungadenocarcinoma; carcinoma

p.R378fs*14; chr18:48591966-48591967

lungadenocarcinoma; carcinoma

p.D351G; chr18:48591889-48591889

lungadenocarcinoma; carcinoma

p.S343S; chr18:48591866-48591866

lungadenocarcinoma; carcinoma

p.S242*; chr18:48584552-48584552

lungadenocarcinoma; carcinoma

p.D493N; chr18:48604655-48604655

lungadenocarcinoma; carcinoma

p.D537E; chr18:48604789-48604789

lungsquamous_cell_carcinoma; carcinoma

p.I179F; chr18:48581231-48581231

lungsmall_cell_carcinoma; carcinoma

p.L536fs*14; chr18:48604784-48604790

lungcarcinoid-endocrine_tumour

p.0?; chr

lungadenocarcinoma; carcinoma

p.E526*; chr18:48604754-48604754

lungsquamous_cell_carcinoma; carcinoma

p.R420H; chr18:48593508-48593508

lungsquamous_cell_carcinoma; carcinoma

p.G65*; chr18:48573609-48573609

lungadenocarcinoma; carcinoma

p.P356R; chr18:48591904-48591904

lungadenocarcinoma; carcinoma

p.S204Y; chr18:48581307-48581307

lungsquamous_cell_carcinoma; carcinoma

p.Q183*; chr18:48581243-48581243

lungsquamous_cell_carcinoma; carcinoma

p.A274E; chr18:48584743-48584743

lungadenocarcinoma; carcinoma

p.G30*; chr18:48573504-48573504

lungsmall_cell_carcinoma; carcinoma

p.?; chr18:48584709-48584709

lungadenocarcinoma; carcinoma

p.H262R; chr18:48584612-48584612

lungsquamous_cell_carcinoma; carcinoma

p.R441P; chr18:48603021-48603021

lungadenocarcinoma; carcinoma

p.P203fs*2; chr18:48581303-48581304

lungadenocarcinoma; carcinoma

p.P544P; chr18:48604810-48604810

lungsquamous_cell_carcinoma; carcinoma

p.D351H; chr18:48591888-48591888

lungadenocarcinoma; carcinoma


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