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.G58R

c.172G>C

Surrounding Variants

1 paper

NM_000541.5

p.G58R

c.172G>A

1 paper

NM_000541.5

p.K60_V61delFs

c.178_181del4

1 paper

NM_000541.5

p.K60fs

c.178_179fs

4 papers

NM_000541.5

p.V61Splc

c.181+1G>A

1 paper

NM_000541.5

p.P53S

c.157C>T

1 paper

NM_000541.5

p.V51A

c.152T>C

1 paper

NM_000541.5

p.V51I

c.151G>A

1 paper

NM_000541.5

p.V48V

c.144C>A

1 paper

NM_000541.5

p.V48insFs

c.142_143ins44

1 paper

NM_000541.5

p.V61Splc

c.181+82A>G

3 papers

NM_000541.5

p.V61Splc

c.182-2A>G

1 paper

NM_000541.5

p.V61Splc

c.182-1G>A