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.S330A

c.988T>G

Surrounding Variants

1 paper

NM_004706.4

p.S330S

c.990C>G

1 paper

NM_004706.4

p.L329L

c.985C>T

1 paper

NM_004706.4

p.P317L

c.950C>T

1 paper

NM_004706.4

p.P317S

c.949C>T

1 paper

NM_004706.4

p.R310R

c.930G>T

1 paper

NM_004706.4

p.P308L

c.923C>T

1 paper

NM_004706.4

p.G306fs

c.916_917fs

1 paper

NM_004706.4

p.G306_N313delFs

c.917_939del23

1 paper

NM_199002.2

p.R300*

c.898C>T

1 paper

NM_004706.4

p.V281Splc

c.842-7G>A

3 papers

NM_004706.4

p.A342V

c.1025C>T

1 paper

NM_004706.4

p.P343H

c.1028C>A