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

3 papers

NM_015198.5

p.E480D

c.1440A>C

Surrounding Variants

3 papers

NM_015198.5

p.E480D

c.1440A>T

2 papers

NM_015198.5

p.E480del1

c.1438_1439delTTC

1 paper

NM_015198.5

p.E481_D482del2

c.1441_1445del6

1 paper

NM_015198.5

p.S477A

c.1429T>G

1 paper

NM_015198.5

p.D497N

c.1489G>A

1 paper

NM_015198.5

p.L500_E501insG

c.1498_1502ins3

3 papers

NM_015198.5

p.S513F

c.1538C>T

1 paper

NM_015198.5

p.A521V

c.1562C>T

2 papers

NM_015198.5

p.P526L

c.1577C>T

3 papers

NM_015198.5

p.G534S

c.1600G>A

1 paper

NM_015198.5

p.D537G

c.1610A>G

1 paper

NM_015198.5

p.A538_I539del1

c.1614_1616delATT