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_014784.4

p.T1461S

c.4382C>G

Surrounding Variants

1 paper

NM_014784.4

p.T1461S

c.4381A>T

1 paper

NM_198236.3

p.S1498insFs

c.4493_4494insC

1 paper

NM_198236.3

p.E1496G

c.4487A>G

1 paper

NM_198236.3

p.P1522P

c.4566C>T

1 paper

NM_198236.3

p.E1536G

c.4607A>G

1 paper

NM_198236.3

p.G1538insFs

c.4613_4614insC

4 papers

NM_198236.3

p.H1467R

c.4400A>G

1 paper

NM_198236.3

p.M1464T

c.4391T>C

2 papers

NM_198236.3

p.V1462A

c.4385T>C

6 papers

NM_198236.3

p.S1456G

c.4366A>G

1 paper

NM_198236.3

p.R1449L

c.4346G>T

1 paper

NM_198236.3

p.R1449H

c.4346G>A