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.S1412L

c.4235C>T

Surrounding Variants

1 paper

NM_015313.3

p.P1393L

c.4178C>T

1 paper

NM_015313.3

p.R1385C

c.4153C>T

1 paper

NM_015313.3

p.F1382S

c.4145T>C

1 paper

NM_015313.3

p.S1377R

c.4131T>A

1 paper

NM_015313.3

p.S1377R

c.4131T>G

1 paper

NM_015313.3

p.S1377R

c.4129A>C

1 paper

NM_015313.3

p.P1370S

c.4108C>T

1 paper

NM_015313.3

p.S1334T

c.4000T>A

1 paper

NM_015313.3

p.R1329Q

c.3986G>A

1 paper

NM_015313.3

p.T1324S

c.3971C>G

1 paper

NM_015313.3

p.T1324S

c.3970A>T

1 paper

NM_015313.3

p.F1315_R1316delFs

c.3945_3946delTA