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

6 papers

NM_000541.5

p.T125M

c.374C>T

Surrounding Variants

1 paper

NM_000541.5

p.L124Q

c.371T>A

1 paper

NM_000541.5

p.Y120N

c.358T>A

1 paper

NM_000541.5

p.T119A

c.355A>G

1 paper

NM_000541.5

p.G116E

c.347G>A

1 paper

NM_000541.5

p.G116W

c.346G>T

1 paper

NM_000541.5

p.L115fs

c.343_344fs

1 paper

NM_000541.5

p.K114insFs

c.341dupA

1 paper

NM_000541.5

p.L112F

c.334C>T

1 paper

NM_000541.5

p.K106_L111del6

c.316_332del18

1 paper

NM_000541.5

p.T105K

c.314C>A

1 paper

NM_000541.5

p.T103fs

c.307_308fs

1 paper

NM_000541.5

p.T103delFs

c.307_308delAC