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.W925*

c.2775G>A

Surrounding Variants

1 paper

NM_015198.5

p.W925*

c.2774G>A

1 paper

NM_015198.5

p.D927N

c.2779G>A

1 paper

NM_015198.5

p.Q923H

c.2769A>T

1 paper

NM_015198.5

p.Q923H

c.2769A>C

1 paper

NM_015198.5

p.S920L

c.2759C>T

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.H940R

c.2819A>G

1 paper

NM_015198.5

p.P949L

c.2846C>T

1 paper

NM_015198.5

p.R951G

c.2851A>G

1 paper

NM_015198.5

p.Y891C

c.2672A>G

1 paper

NM_015198.5

p.K960N

c.2880G>T