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.D100Splc

c.299-145G>A

Surrounding Variants

1 paper

NM_015313.3

p.R105W

c.313C>T

3 papers

NM_015313.3

p.R113Q

c.338G>A

1 paper

NM_015313.3

p.P91L

c.272C>T

1 paper

NM_015313.3

p.G88E

c.263G>A

1 paper

NM_015313.3

p.Q76Q

c.228G>A

1 paper

NM_015313.3

p.R71H

c.212G>A

1 paper

NM_015313.3

p.N126I

c.377A>T

1 paper

NM_015313.3

p.S136T

c.406T>A

1 paper

NM_015313.3

p.S136Splc

c.406+1G>C

1 paper

NM_015313.3

p.S138Y

c.413C>A

2 papers

NM_015313.3

p.R147C

c.439C>T

1 paper

NM_015313.3

p.Q153*

c.457C>T