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.G760R

c.2278G>A

Surrounding Variants

1 paper

NM_004706.4

p.G760R

c.2278G>C

1 paper

NM_004706.4

p.P765R

c.2294C>G

1 paper

NM_004706.4

p.D721G

c.2162A>G

1 paper

NM_004706.4

p.L785L

c.2355C>T

1 paper

NM_004706.4

p.S786S

c.2358C>T

1 paper

NM_004706.4

p.T797M

c.2390C>T

1 paper

NM_004706.4

p.S798C

c.2393C>G

1 paper

NM_004706.4

p.E805K

c.2413G>A

1 paper

NM_004706.4

p.C815Y

c.2444G>A

1 paper

NM_004706.4

p.P819P

c.2457C>T

1 paper

NM_004706.4

p.E820K

c.2458G>A

1 paper

NM_004706.4

p.L823L

c.2469C>A