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

1–12 of 225 variants

5 papers

NM_015313.3

p.R741Q

c.2222G>A

5 papers

NM_015313.3

p.Y973F

c.2918A>T

4 papers

NM_015313.3

p.A624V

c.1871C>T

4 papers

NM_015313.3

p.D1158V

c.3473A>T

4 papers

NM_015313.3

p.Y1306C

c.3917A>G

3 papers

NM_015313.3

p.R113Q

c.338G>A

3 papers

NM_015313.3

p.S182F

c.545C>T

3 papers

NM_015313.3

p.E759A

c.2276A>C

3 papers

NM_015313.3

p.D1180N

c.3538G>A

3 papers

NM_015313.3

p.G1309V

c.3926G>T

2 papers

NM_015313.3

p.P29S

c.85C>T

2 papers

NM_015313.3

p.D45N

c.133G>A