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.A101fs

c.301_302fs

Surrounding Variants

4 papers

NM_000541.5

p.A101T

c.301G>A

1 paper

NM_000541.5

p.A100insFs

c.299_300insT

1 paper

NM_000541.5

p.S102delFs

c.304delA

1 paper

NM_000541.5

p.S102fs

c.304_305fs

1 paper

NM_000541.5

p.A100fs

c.298_299fs

1 paper

NM_000541.5

p.A100insFs

c.298_299insTG

1 paper

NM_000541.5

p.T103delFs

c.307_308delAC

1 paper

NM_000541.5

p.T103fs

c.307_308fs

1 paper

NM_000541.5

p.G99R

c.295G>A

1 paper

NM_000541.5

p.P97L

c.290C>T

1 paper

NM_000541.5

p.T105K

c.314C>A

1 paper

NM_000541.5

p.K106_L111del6

c.316_332del18