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

2 papers

NM_198236.3

p.H305H

c.915C>T

Surrounding Variants

1 paper

NM_198236.3

p.S295Y

c.884C>A

1 paper

NM_198236.3

p.G288E

c.863G>A

1 paper

NM_198236.3

p.S265P

c.793T>C

1 paper

NM_198236.3

p.L263F

c.789G>T

1 paper

NM_198236.3

p.L263F

c.789G>C

1 paper

NM_198236.3

p.G250S

c.748G>A

1 paper

NM_198236.3

p.G250Splc

c.748+7C>A

1 paper

NM_198236.3

p.Q227L

c.680A>T

1 paper

NM_198236.3

p.Q223H

c.669G>T

1 paper

NM_198236.3

p.R218R

c.654A>T

1 paper

NM_198236.3

p.R218*

c.652C>T

1 paper

NM_198236.3

p.R216W

c.646C>T