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

Basic Information

Gene ID

1073

Name

CFL2

Synonymous

NEM7;cofilin 2 (muscle);CFL2;cofilin 2 (muscle)

Definition

cofilin, muscle isoform|cofilin-2|nemaline myopathy type 7

Position

14q12

Gene Type

protein-coding

Gene Mutation:

GWAS results
PAH samples
Lung cancer

GWAS results   [Top]

There is no record for CFL2

Lung cancer   [Top]

Mutation (Type; AA; Chr)

Site

Histology

p.R146C; chr14:35182136-35182136

lungsquamous_cell_carcinoma; carcinoma

p.P76L; chr14:35182544-35182544

lungadenocarcinoma; carcinoma

p.L99L; chr14:35182474-35182474

lungsquamous_cell_carcinoma; carcinoma


')