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

1–12 of 123 variants

3 papers

NM_015198.5

p.E480D

c.1440A>T

3 papers

NM_015198.5

p.E480D

c.1440A>C

3 papers

NM_015198.5

p.S513F

c.1538C>T

3 papers

NM_015198.5

p.G534S

c.1600G>A

3 papers

NM_015198.5

p.V607I

c.1819G>A

2 papers

NM_015198.5

p.R20P

c.59G>C

2 papers

NM_015198.5

p.M410L

c.1228A>T

2 papers

NM_015198.5

p.M410L

c.1228A>C

2 papers

NM_015198.5

p.E480del1

c.1438_1439delTTC

2 papers

NM_015198.5

p.P526L

c.1577C>T

2 papers

NM_015198.5

p.D577A

c.1730A>C

2 papers

NM_015198.5

p.E777*

c.2329G>T