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

1–12 of 132 variants

3 papers

NM_004706.4

p.E27K

c.79G>A

3 papers

NM_004706.4

p.A342V

c.1025C>T

3 papers

NM_004706.4

p.P375L

c.1124C>T

2 papers

NM_004706.4

p.E27D

c.81G>C

2 papers

NM_004706.4

p.D30G

c.89A>G

2 papers

NM_004706.4

p.E41K

c.121G>A

2 papers

NM_004706.4

p.E71K

c.211G>A

2 papers

NM_004706.4

p.E71A

c.212A>C

2 papers

NM_004706.4

p.L677P

c.2030T>C

1 paper

NM_004706.4

p.E2_D3delFs

c.6_7delAG

1 paper

NM_004706.4

p.A5D

c.14C>A

1 paper

NM_004706.4

p.R6_G7del2

c.16_20del6