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.A1114V

c.3341C>T

Surrounding Variants

1 paper

NM_015313.3

p.E1111K

c.3331G>A

1 paper

NM_015313.3

p.V1122I

c.3364G>A

1 paper

NM_015313.3

p.D1104D

c.3312C>T

1 paper

NM_015313.3

p.D1104H

c.3310G>C

1 paper

NM_015313.3

p.Q1124K

c.3370C>A

1 paper

NM_015313.3

p.G1150G

c.3450C>T

1 paper

NM_015313.3

p.E1151K

c.3451G>A

1 paper

NM_015313.3

p.E1156V

c.3467A>T

1 paper

NM_015313.3

p.D1158N

c.3472G>A

4 papers

NM_015313.3

p.D1158V

c.3473A>T

1 paper

NM_015313.3

p.D1158E

c.3474T>A

1 paper

NM_015313.3

p.D1158E

c.3474T>G