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.F372L

c.1116C>G

Surrounding Variants

1 paper

NM_198236.3

p.F372L

c.1116C>A

1 paper

NM_198236.3

p.F372L

c.1114T>C

1 paper

NM_198236.3

p.Q374*

c.1120C>T

1 paper

NM_198236.3

p.R360W

c.1078C>T

1 paper

NM_198236.3

p.D353N

c.1057G>A

1 paper

NM_198236.3

p.E346_S347Splc

c.1039-51G>A

1 paper

NM_198236.3

p.N345N

c.1035C>T

1 paper

NM_198236.3

p.L381I

c.1141C>A

1 paper

NM_014784.4

p.Y343H

c.1027T>C

1 paper

NM_198236.3

p.C385Y

c.1154G>A

1 paper

NM_198236.3

p.G401W

c.1201G>T

1 paper

NM_198236.3

p.D403N

c.1207G>A