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.P737Q

c.2210C>A

Surrounding Variants

5 papers

NM_015313.3

p.R741Q

c.2222G>A

1 paper

NM_015313.3

p.K742Splc

c.2225+48G>A

1 paper

NM_015313.3

p.G749R

c.2245G>A

1 paper

NM_015313.3

p.G749R

c.2245G>C

3 papers

NM_015313.3

p.E759A

c.2276A>C

1 paper

NM_015313.3

p.L762F

c.2286A>C

1 paper

NM_015313.3

p.L762F

c.2286A>T

1 paper

NM_015313.3

p.D765H

c.2293G>C

1 paper

NM_015313.3

p.F713S

c.2138T>C

1 paper

NM_015313.3

p.A695E

c.2084C>A

2 papers

NM_015313.3

p.V690I

c.2068G>A

1 paper

NM_015313.3

p.I843Splc

c.2528-489C>T