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.G195R

c.583G>A

Surrounding Variants

1 paper

NM_015313.3

p.G195R

c.583G>C

1 paper

NM_015313.3

p.V192L

c.574G>C

1 paper

NM_015313.3

p.V192L

c.574G>T

1 paper

NM_015313.3

p.T189I

c.566C>T

1 paper

NM_015313.3

p.E186K

c.556G>A

2 papers

NM_015313.3

p.M185I

c.555G>C

1 paper

NM_015313.3

p.G183W

c.547G>T

3 papers

NM_015313.3

p.S182F

c.545C>T

1 paper

NM_015313.3

p.P179S

c.535C>T

1 paper

NM_015313.3

p.M173V

c.517A>G

1 paper

NM_015313.3

p.H168R

c.503A>G

1 paper

NM_015313.3

p.G167G

c.501A>G