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

2 papers

NM_004706.4

p.L677P

c.2030T>C

Surrounding Variants

1 paper

NM_004706.4

p.L694P

c.2081T>C

1 paper

NM_004706.4

p.P696S

c.2086C>T

1 paper

NM_004706.4

p.W656S

c.1967G>C

1 paper

NM_004706.4

p.L635L

c.1903C>T

1 paper

NM_004706.4

p.R620Q

c.1859G>A

1 paper

NM_004706.4

p.D617V

c.1850A>T

1 paper

NM_004706.4

p.D721G

c.2162A>G

1 paper

NM_004706.4

p.E593K

c.1777G>A

1 paper

NM_004706.4

p.G760R

c.2278G>A

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.Y568*

c.1704C>A