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

4 papers

NM_015313.3

p.A624V

c.1871C>T

Surrounding Variants

1 paper

NM_015313.3

p.E620K

c.1858G>A

1 paper

NM_015313.3

p.L630F

c.1890A>C

1 paper

NM_015313.3

p.L630F

c.1890A>T

2 papers

NM_015313.3

p.S631P

c.1891T>C

1 paper

NM_015313.3

p.S635F

c.1904C>T

1 paper

NM_015313.3

p.E639E

c.1917A>G

1 paper

NM_015313.3

p.P640L

c.1919C>T

1 paper

NM_015313.3

p.Q641E

c.1921C>G

1 paper

NM_015313.3

p.R647H

c.1940G>A

1 paper

NM_015313.3

p.G650A

c.1949G>C

1 paper

NM_015313.3

p.I615Splc

c.1844-69T>C

1 paper

NM_015313.3

p.G659R

c.1975G>A