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.S35L

c.104C>T

Surrounding Variants

1 paper

NM_198236.3

p.A37S

c.109G>T

1 paper

NM_198236.3

p.H30R

c.89A>G

1 paper

NM_198236.3

p.R25C

c.73C>T

1 paper

NM_198236.3

p.S13C

c.37A>T

1 paper

NM_198236.3

p.R11R

c.33G>A

1 paper

NM_198236.3

p.C47S

c.139T>A

1 paper

NM_198236.3

p.C47S

c.140G>C

1 paper

NM_198236.3

p.G63W

c.187G>T

1 paper

NM_198236.3

p.R65H

c.194G>A

1 paper

NM_198236.3

p.V67D

c.200T>A

1 paper

NM_198236.3

p.R73L

c.218G>T

1 paper

NM_198236.3

p.R73Q

c.218G>A