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.I148F

c.442A>T

Surrounding Variants

1 paper

NM_198236.3

p.L157fs

c.469_470fs

1 paper

NM_198236.3

p.L157delFs

c.470delA

1 paper

NM_198236.3

p.M96I

c.288G>C

1 paper

NM_198236.3

p.G94D

c.281G>A

1 paper

NM_198236.3

p.H177H

c.531T>C

1 paper

NM_198236.3

p.M185V

c.553A>G

1 paper

NM_198236.3

p.L186V

c.556C>G

1 paper

NM_198236.3

p.L193*

c.578T>G

1 paper

NM_198236.3

p.L193*

c.578T>A

2 papers

NM_198236.3

p.R88Q

c.263G>A

1 paper

NM_198236.3

p.V83G

c.248T>G

1 paper

NM_198236.3

p.G82D

c.245G>A