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.R993C

c.2977C>T

Surrounding Variants

1 paper

NM_015313.3

p.R992H

c.2975G>A

1 paper

NM_015313.3

p.Q991L

c.2972A>T

1 paper

NM_015313.3

p.R986H

c.2957G>A

1 paper

NM_015313.3

p.P1005A

c.3013C>G

1 paper

NM_015313.3

p.I1036V

c.3106A>G

1 paper

NM_015313.3

p.D1055V

c.3164A>T

1 paper

NM_015313.3

p.K1064E

c.3190A>G

1 paper

NM_015313.3

p.L1066V

c.3196C>G

1 paper

NM_015313.3

p.K1073E

c.3217A>G

1 paper

NM_015313.3

p.V1079L

c.3235G>C

1 paper

NM_015313.3

p.V1079V

c.3237C>T

1 paper

NM_015313.3

p.K1081R

c.3242A>G