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

1 paper

NM_001258315.2

p.V77I

c.229G>A

Surrounding Variants

1 paper

NM_001258315.2

p.I82T

c.245T>C

1 paper

NM_001258315.2

p.E63delFs

c.189delA

1 paper

NM_001258315.2

p.E45D

c.135G>C

1 paper

NM_001258315.2

p.E45D

c.135G>T

1 paper

NM_001258315.2

p.I21V

c.61A>G

1 paper

NM_001258315.2

p.T8P

c.22A>C

1 paper

NM_001258315.2

p.E3Fs

c.7delinsTGGTCFs

2 papers

NM_001258315.2

p.F138I

c.412T>A

1 paper

NM_001258315.2

p.S158L

c.473C>T

2 papers

NM_001258316.2

p.T153A

c.457A>G

1 paper

NM_001258315.2

p.K189del1

c.565_566delAAA

1 paper

NM_001258315.2

p.R228_V229Splc

c.685-52C>T