Varaico: Literature-Extracted Genetic Variants

ARHGEF1

123 papers

RefSeq Summary

Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with ...

Pfam Domains

RGS-likeaa 42–232UCSCRegulator of G protein signalling-like domain

RhoGEFaa 420–603UCSCRhoGEF domain

PH_16aa 632–760UCSCPH domain

Gene Aliases

HGNC Name

Rho guanine nucleotide exchange factor 1

HGNC Alias Symbols

P115-RHOGEF; SUB1.5; LBCL2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004706.4

p.K214E

c.640A>G

Surrounding Variants

1 paper

NM_004706.4

p.E213A

c.638A>C

1 paper

NM_004706.4

p.S215R

c.643A>C

1 paper

NM_004706.4

p.E212A

c.635A>C

1 paper

NM_004706.4

p.T207A

c.619A>G

1 paper

NM_004706.4

p.Q205L

c.614A>T

1 paper

NM_004706.4

p.A184A

c.552C>A

1 paper

NM_004706.4

p.A184V

c.551C>T

1 paper

NM_004706.4

p.M165V

c.493A>G

1 paper

NM_004706.4

p.S159A

c.475T>G

1 paper

NM_004706.4

p.D156A

c.467A>C

1 paper

NM_004706.4

p.E155K

c.463G>A

1 paper

NM_004706.4

p.V150E

c.449T>A