Varaico: Literature-Extracted Genetic Variants

ARHGEF11

148 papers

RefSeq Summary

Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form a complex wit...

Pfam Domains

PDZaa 47–120UCSCPDZ domain

RGS-likeaa 307–486UCSCRegulator of G protein signalling-like domain

RhoGEFaa 738–921UCSCRhoGEF domain

PH_16aa 950–1079UCSCPH domain

Gene Aliases

HGNC Name

Rho guanine nucleotide exchange factor 11

HGNC Alias Symbols

KIAA0380; GTRAP48; PDZ-RHOGEF

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_198236.3

p.A692T

c.2074G>A

Surrounding Variants

1 paper

NM_198236.3

p.S693L

c.2078C>T

1 paper

NM_198236.3

p.L688L

c.2062C>T

1 paper

NM_198236.3

p.S697F

c.2090C>T

1 paper

NM_198236.3

p.R665*

c.1993C>T

1 paper

NM_198236.3

p.E653K

c.1957G>A

1 paper

NM_198236.3

p.R644H

c.1931G>A

1 paper

NM_198236.3

p.P713L

c.2138C>T

1 paper

NM_198236.3

p.R717C

c.2149C>T

1 paper

NM_198236.3

p.S719N

c.2156G>A

1 paper

NM_198236.3

p.E721V

c.2162A>T

1 paper

NM_198236.3

p.T729I

c.2186C>T

1 paper

NM_198236.3

p.D730N

c.2188G>A