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

2 papers

NM_015198.5

p.M410L

c.1228A>T

Surrounding Variants

2 papers

NM_015198.5

p.M410L

c.1228A>C

1 paper

NM_015198.5

p.D402N

c.1204G>A

1 paper

NM_015198.5

p.A399delFs

c.1196delG

1 paper

NM_015198.5

p.S421L

c.1262C>T

1 paper

NM_015198.5

p.M426I

c.1278G>T

1 paper

NM_015198.5

p.M426I

c.1278G>C

1 paper

NM_015198.5

p.M426I

c.1278G>A

1 paper

NM_015198.5

p.P382Q

c.1145C>A

1 paper

NM_015198.5

p.D438G

c.1313A>G

1 paper

NM_015198.5

p.S372F

c.1115C>T