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.G486V

c.1457G>T

Surrounding Variants

1 paper

NM_001258315.2

p.K516R

c.1547A>G

1 paper

NM_001258315.2

p.D431Splc

c.1292-7G>A

2 papers

NM_001258315.2

p.D527N

c.1579G>A

1 paper

NM_001258315.2

p.S531N

c.1592G>A

1 paper

NM_001258315.2

p.Y539C

c.1616A>G

1 paper

NM_001258315.2

p.L411F

c.1231C>T

1 paper

NM_001258315.2

p.R402H

c.1205G>A

1 paper

NM_001258315.2

p.P400P

c.1200A>T

1 paper

NM_001258315.2

p.E393Q

c.1177G>C

1 paper

NM_001258315.2

p.R380Q

c.1139G>A

1 paper

NM_001258315.2

p.R380*

c.1138C>T

1 paper

NM_001258315.2

p.R378L

c.1133G>T