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.I427N

c.1280T>A

Surrounding Variants

1 paper

NM_198236.3

p.A413V

c.1238C>T

1 paper

NM_198236.3

p.D428Splc

c.1283-5T>C

2 papers

NM_014784.4

p.R390C

c.1168C>T

NM_198236.3

p.R430C

c.1288C>T

1 paper

NM_198236.3

p.D403N

c.1207G>A

1 paper

NM_198236.3

p.R432W

c.1294C>T

1 paper

NM_198236.3

p.G401W

c.1201G>T

1 paper

NM_198236.3

p.R438delFs

c.1312_1313delCG

2 papers

NM_198236.3

p.E446Q

c.1336G>C

2 papers

NM_198236.3

p.A447T

c.1339G>A

1 paper

NM_198236.3

p.C385Y

c.1154G>A

1 paper

NM_014784.4

p.Y343H

c.1027T>C

1 paper

NM_198236.3

p.L381I

c.1141C>A