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.V61Splc

c.182-1G>A

Surrounding Variants

3 papers

NM_000541.5

p.V61Splc

c.182-2A>G

1 paper

NM_000541.5

p.R70H

c.209G>A

5 papers

NM_000541.5

p.I76V

c.226A>G

1 paper

NM_000541.5

p.D77E

c.231C>A

1 paper

NM_000541.5

p.V78M

c.232G>A

1 paper

NM_000541.5

p.F83I

c.247T>A

1 paper

NM_000541.5

p.R84G

c.250C>G

1 paper

NM_000541.5

p.R84C

c.250C>T

1 paper

NM_000541.5

p.R84R

c.252C>A

1 paper

NM_000541.5

p.L87P

c.260T>C

1 paper

NM_000541.5

p.R91W

c.271C>T

1 paper

NM_000541.5

p.V94A

c.281T>C