Varaico: Literature-Extracted Genetic Variants

ARHGEF12

191 papers

RefSeq Summary

Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli working through G protein-coupled receptors. The encoded protein may form a complex with ...

Pfam Domains

PDZaa 73–145UCSCPDZ domain

RGS-likeaa 368–558UCSCRegulator of G protein signalling-like domain

RhoGEFaa 791–975UCSCRhoGEF domain

PH_16aa 1004–1132UCSCPH domain

Gene Aliases

HGNC Name

Rho guanine nucleotide exchange factor 12

HGNC Alias Symbols

KIAA0382; LARG

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015313.3

p.R968H

c.2903G>A

Surrounding Variants

5 papers

NM_015313.3

p.Y973F

c.2918A>T

1 paper

NM_015313.3

p.E980K

c.2938G>A

1 paper

NM_015313.3

p.I947V

c.2839A>G

1 paper

NM_015313.3

p.N946D

c.2836A>G

1 paper

NM_015313.3

p.Q933E

c.2797C>G

1 paper

NM_015313.3

p.R922S

c.2764C>A

2 papers

NM_015313.3

p.R922C

c.2764C>T

1 paper

NM_015313.3

p.R986H

c.2957G>A

1 paper

NM_015313.3

p.Q991L

c.2972A>T

1 paper

NM_015313.3

p.R992H

c.2975G>A

1 paper

NM_015313.3

p.R993C

c.2977C>T

1 paper

NM_015313.3

p.P1005A

c.3013C>G