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.A993E

c.2978C>A

Surrounding Variants

1 paper

NM_198236.3

p.K997R

c.2990A>G

1 paper

NM_198236.3

p.E986K

c.2956G>A

1 paper

NM_198236.3

p.E974D

c.2922G>T

1 paper

NM_198236.3

p.E974D

c.2922G>C

1 paper

NM_198236.3

p.R970H

c.2909G>A

1 paper

NM_198236.3

p.A963V

c.2888C>T

1 paper

NM_198236.3

p.A949P

c.2845G>C

1 paper

NM_198236.3

p.T940I

c.2819C>T

1 paper

NM_198236.3

p.K997_S998Splc

c.2992-108A>G

1 paper

NM_198236.3

p.D1023Splc

c.3068-30G>A

2 papers

NM_198236.3

p.V1026M

c.3076G>A

1 paper

NM_198236.3

p.L1029L

c.3087G>A