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.A849T

c.2545G>A

Surrounding Variants

1 paper

NM_015198.5

p.P836L

c.2507C>T

2 papers

NM_015198.5

p.T863M

c.2588C>T

1 paper

NM_015198.5

p.Q866H

c.2598G>T

1 paper

NM_015198.5

p.Q866H

c.2598G>C

1 paper

NM_015198.5

p.L829P

c.2486T>C

1 paper

NM_015198.5

p.R887S

c.2661G>T

1 paper

NM_015198.5

p.R887S

c.2661G>C

1 paper

NM_015198.5

p.Y891C

c.2672A>G

1 paper

NM_015198.5

p.H919Q

c.2757C>G

1 paper

NM_015198.5

p.H919Q

c.2757C>A

1 paper

NM_015198.5

p.S920L

c.2759C>T

2 papers

NM_015198.5

p.E777*

c.2329G>T