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.A1043T

c.3127G>A

Surrounding Variants

1 paper

NM_015198.5

p.G1045D

c.3134G>A

1 paper

NM_015198.5

p.H1051L

c.3152A>T

1 paper

NM_015198.5

p.H1051R

c.3152A>G

1 paper

NM_015198.5

p.Q1030E

c.3088C>G

1 paper

NM_015198.5

p.K1069E

c.3205A>G

1 paper

NM_015198.5

p.A1015P

c.3043G>C

1 paper

NM_015198.5

p.Q980*

c.2938C>T

1 paper

NM_015198.5

p.M1114K

c.3341T>A

1 paper

NM_015198.5

p.K960N

c.2880G>T

1 paper

NM_015198.5

p.K960N

c.2880G>C

1 paper

NM_015198.5

p.R951G

c.2851A>G

1 paper

NM_015198.5

p.P949L

c.2846C>T