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.R691Q

c.2072G>A

Surrounding Variants

1 paper

NM_015198.5

p.N694fs

c.2080_2081fs

1 paper

NM_015198.5

p.N694_P695delFs

c.2082_2085del4

1 paper

NM_015198.5

p.K697I

c.2090A>T

1 paper

NM_015198.5

p.L701I

c.2101C>A

1 paper

NM_015198.5

p.K646delFs

c.1938delT

1 paper

NM_015198.5

p.K646fs

c.1936_1937fs

1 paper

NM_015198.5

p.Q762*

c.2284C>T

1 paper

NM_015198.5

p.R612H

c.1835G>A

3 papers

NM_015198.5

p.V607I

c.1819G>A

2 papers

NM_015198.5

p.E777*

c.2329G>T

1 paper

NM_015198.5

p.K592K

c.1776G>A

1 paper

NM_015198.5

p.E591K

c.1771G>A