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

Basic Information

Gene ID

57154

Name

SMURF1

Synonymous

-;SMAD specific E3 ubiquitin protein ligase 1;SMURF1;SMAD specific E3 ubiquitin protein ligase 1

Definition

E3 ubiquitin ligase SMURF1|E3 ubiquitin-protein ligase SMURF1|SMAD-specific E3 ubiquitin-protein ligase 1|Smad ubiquitination regulatory factor 1|Smad-specific E3 ubiquitin ligase 1|hSMURF1

Position

7q22.1

Gene Type

protein-coding

Gene Mutation:

GWAS results
PAH samples
Lung cancer

GWAS results   [Top]

There is no record for SMURF1

Lung cancer   [Top]

Mutation (Type; AA; Chr)

Site

Histology

p.G437R; chr7:98643346-98643346

lungadenocarcinoma; carcinoma

p.E365*; chr7:98645444-98645444

lungsquamous_cell_carcinoma; carcinoma

p.L364V; chr7:98645447-98645447

lungsquamous_cell_carcinoma; carcinoma

p.?; chr7:98658339-98658339

lungsquamous_cell_carcinoma; carcinoma

p.?; chr7:98655033-98655033

lungadenocarcinoma; carcinoma

p.G434V; chr7:98643354-98643354

lungsquamous_cell_carcinoma; carcinoma

p.G520W; chr7:98638071-98638071

lungsquamous_cell_carcinoma; carcinoma

p.M429I; chr7:98643368-98643368

lungadenocarcinoma; carcinoma

p.?; chr7:98659462-98659462

lungsquamous_cell_carcinoma; carcinoma

p.G461W; chr7:98639809-98639809

lungadenocarcinoma; carcinoma

p.L640V; chr7:98633309-98633309

lungadenocarcinoma; carcinoma

p.L640V; chr7:98633309-98633309

lungadenocarcinoma; carcinoma


')