Varaico: Literature-Extracted Genetic Variants

COBL

125 papers

RefSeq Summary

This gene encodes a protein that contains WH2 domains (WASP, Wiskott-Aldrich syndrome protein, homology domain-2) that interact with actin. The encoded actin regulator protein is required for growth a...

Pfam Domains

Coblaa 144–235UCSCCordon-bleu ubiquitin-like domain

WH2aa 1106–1136UCSCWH2 motif

WH2aa 1146–1176UCSCWH2 motif

WH2aa 1235–1258UCSCWH2 motif

Gene Aliases

HGNC Name

cordon-bleu WH2 repeat protein

HGNC Alias Symbol

KIAA0633

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015198.5

p.K75N

c.225G>T

Surrounding Variants

1 paper

NM_015198.5

p.S77T

c.230G>C

1 paper

NM_015198.5

p.V67M

c.199G>A

1 paper

NM_015198.5

p.L51F

c.153G>T

1 paper

NM_015198.5

p.L51F

c.153G>C

1 paper

NM_015198.5

p.Q49R

c.146A>G

2 papers

NM_015198.5

p.R20P

c.59G>C