Varaico: Literature-Extracted Genetic Variants

ECT2

56 papers

RefSeq Summary

The protein encoded by this gene is a guanine nucleotide exchange factor and transforming protein that is related to Rho-specific exchange factors and yeast cell cycle regulators. The expression of th...

Pfam Domains

ECT2_BRCT0aa 92–172UCSCECT2, BRCT0 domain

PTCB-BRCTaa 179–242UCSCtwin BRCT domain

BRCTaa 266–341UCSCBRCA1 C Terminus (BRCT) domain

RhoGEFaa 456–639UCSCRhoGEF domain

ECT2_PHaa 667–792UCSCECT2, PH domain

Gene Aliases

HGNC Name

epithelial cell transforming 2

HGNC Alias Symbol

ARHGEF31

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_001258315.2

p.N802H

c.2404A>C

Surrounding Variants

1 paper

NM_001258315.2

p.K817R

c.2450A>G

1 paper

NM_001258315.2

p.T833P

c.2497A>C

1 paper

NM_001258315.2

p.S891fs

c.2671_2672fs

1 paper

NM_001258315.2

p.S891delFs

c.2672delC

1 paper

NM_001258315.2

p.A800A

c.2400T>C

1 paper

NM_001258315.2

p.G719A

c.2156G>C

1 paper

NM_001258315.2

p.G719S

c.2155G>A

1 paper

NM_001258315.2

p.G719C

c.2155G>T