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.L68R

c.203T>G

Surrounding Variants

1 paper

NM_004706.4

p.A67A

c.201C>G

1 paper

NM_004706.4

p.F70Y

c.209T>A

2 papers

NM_004706.4

p.E71K

c.211G>A

2 papers

NM_004706.4

p.E71A

c.212A>C

1 paper

NM_004706.4

p.Q64R

c.191A>G

1 paper

NM_004706.4

p.L62R

c.185T>G

1 paper

NM_004706.4

p.R55H

c.164G>A

1 paper

NM_004706.4

p.R54W

c.160C>T

1 paper

NM_004706.4

p.K53_R54ins4

c.157_161ins12

1 paper

NM_004706.4

p.V52G

c.155T>G

1 paper

NM_004706.4

p.Q47L

c.140A>T

1 paper

NM_004706.4

p.S44T

c.131G>C