Varaico: Literature-Extracted Genetic Variants

SAG

287 papers

RefSeq Summary

Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of cellular responses to sti...

Pfam Domains

Arrestin_Naa 26–184UCSCArrestin (or S-antigen), N-terminal domain

Arrestin_Caa 203–364UCSCArrestin (or S-antigen), C-terminal domain

Gene Aliases

HGNC Name

S-antigen visual arrestin

HGNC Alias Symbols

ARRESTIN; RP47

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000541.5

p.I168N

c.503T>A

Surrounding Variants

1 paper

NM_000541.5

p.K167N

c.501A>C

1 paper

NM_000541.5

p.K167N

c.501A>T

1 paper

NM_000541.5

p.K167E

c.499A>G

1 paper

NM_000541.5

p.K171E

c.511A>G

1 paper

NM_000541.5

p.D162A

c.485A>C

2 papers

NM_000541.5

p.S160N

c.479G>A

3 papers

NM_000541.5

p.T158K

c.473C>A

1 paper

NM_000541.5

p.D150N

c.448G>A

1 paper

NM_000541.5

p.G148R

c.442G>A

1 paper

NM_000541.5

p.G148R

c.442G>C

11 papers

NM_000541.5

p.C147F

c.440G>T

1 paper

NM_000541.5

p.K145_S146Splc

c.436-2A>G