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.R38H

c.113G>A

Surrounding Variants

1 paper

NM_015313.3

p.K32N

c.96G>C

1 paper

NM_015313.3

p.K32N

c.96G>T

2 papers

NM_015313.3

p.D45N

c.133G>A

1 paper

NM_015313.3

p.P29Q

c.86C>A

1 paper

NM_015313.3

p.T47R

c.140C>G

1 paper

NM_015313.3

p.P29L

c.86C>T

2 papers

NM_015313.3

p.P29S

c.85C>T

1 paper

NM_015313.3

p.R26*

c.76C>T

1 paper

NM_015313.3

p.R19Splc

c.56+39T>C

1 paper

NM_015313.3

p.E59G

c.176A>G

1 paper

NM_015313.3

p.Y66H

c.196T>C