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

Basic Information

Gene ID

7048

Name

TGFBR2

Synonymous

AAT3|FAA3|LDS1B|LDS2B|MFS2|RIIC|TAAD2|TGFR-2|TGFbeta-RII;transforming growth factor, beta receptor II (70/80kDa);TGFBR2;transforming growth factor, beta receptor II (70/80kDa)

Definition

TGF-beta receptor type IIB|TGF-beta receptor type-2|TGF-beta type II receptor|tbetaR-II|transforming growth factor beta receptor type IIC|transforming growth factor, beta receptor II (70/80kDa) isoform 1|transforming growth factor, beta receptor II (70/80

Position

3p22

Gene Type

protein-coding

Gene Mutation:

GWAS results
PAH samples
Lung cancer

GWAS results   [Top]

There is no record for TGFBR2

Lung cancer   [Top]

Mutation (Type; AA; Chr)

Site

Histology

p.K277E; chr3:30713504-30713504

lungsquamous_cell_carcinoma; carcinoma

p.R528C; chr3:30732969-30732969

lungadenocarcinoma; carcinoma

p.R528C; chr3:30732969-30732969

lungadenocarcinoma; carcinoma

p.D446N; chr3:30715678-30715678

lungsquamous_cell_carcinoma; carcinoma

p.Q306*; chr3:30713591-30713591

lungsquamous_cell_carcinoma; carcinoma

p.T239T; chr3:30713392-30713392

lungsquamous_cell_carcinoma; carcinoma

p.L242L; chr3:30713401-30713401

lungsquamous_cell_carcinoma; carcinoma

p.H328Y; chr3:30713657-30713657

lungnon_small_cell_carcinoma; carcinoma

p.S295*; chr3:30713559-30713559

lungsquamous_cell_carcinoma; carcinoma

p.L263L; chr3:30713464-30713464

lungadenocarcinoma; carcinoma

p.D411Y; chr3:30713906-30713906

lungadenocarcinoma; carcinoma

p.T518S; chr3:30732939-30732939

lungadenocarcinoma; carcinoma

p.S553>?; chr3:30733046-30733047

lungadenocarcinoma; carcinoma


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