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.T1324S

c.3970A>T

Surrounding Variants

1 paper

NM_015313.3

p.T1324S

c.3971C>G

1 paper

NM_015313.3

p.R1329Q

c.3986G>A

1 paper

NM_015313.3

p.F1315_R1316delFs

c.3945_3946delTA

1 paper

NM_015313.3

p.P1314S

c.3940C>T

1 paper

NM_015313.3

p.S1334T

c.4000T>A

1 paper

NM_015313.3

p.M1313L

c.3937A>C

1 paper

NM_015313.3

p.M1313L

c.3937A>T

3 papers

NM_015313.3

p.G1309V

c.3926G>T

4 papers

NM_015313.3

p.Y1306C

c.3917A>G

1 paper

NM_015313.3

p.T1293K

c.3878C>A

1 paper

NM_015313.3

p.P1291Q

c.3872C>A

2 papers

NM_015313.3

p.S1288A

c.3862T>G