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.K1067R

c.3200A>G

Surrounding Variants

1 paper

NM_198236.3

p.V1065M

c.3193G>A

1 paper

NM_198236.3

p.R1074C

c.3220C>T

1 paper

NM_198236.3

p.A1077T

c.3229G>A

1 paper

NM_198236.3

p.A1077D

c.3230C>A

1 paper

NM_198236.3

p.L1044M

c.3130T>A

1 paper

NM_198236.3

p.L1043P

c.3128T>C

1 paper

NM_198236.3

p.D1031N

c.3091G>A

1 paper

NM_198236.3

p.L1029L

c.3087G>A

2 papers

NM_198236.3

p.V1026M

c.3076G>A

1 paper

NM_198236.3

p.D1023Splc

c.3068-30G>A

1 paper

NM_198236.3

p.K997_S998Splc

c.2992-108A>G

1 paper

NM_198236.3

p.K997R

c.2990A>G