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.A538_I539del2

c.1612_1616del6

Surrounding Variants

1 paper

NM_015198.5

p.A538_I539del1

c.1614_1616delATT

1 paper

NM_015198.5

p.D537G

c.1610A>G

3 papers

NM_015198.5

p.G534S

c.1600G>A

2 papers

NM_015198.5

p.P526L

c.1577C>T

1 paper

NM_015198.5

p.A521V

c.1562C>T

3 papers

NM_015198.5

p.S513F

c.1538C>T

1 paper

NM_015198.5

p.D577H

c.1729G>C

2 papers

NM_015198.5

p.D577A

c.1730A>C

1 paper

NM_015198.5

p.E591K

c.1771G>A

1 paper

NM_015198.5

p.K592K

c.1776G>A

3 papers

NM_015198.5

p.V607I

c.1819G>A

1 paper

NM_015198.5

p.R612H

c.1835G>A