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

1–12 of 200 variants

20 papers

NM_000541.5

p.R193*

c.577C>T

16 papers

NM_000541.5

p.N309delFs

c.926delA

13 papers

NM_000541.5

p.R292*

c.874C>T

11 papers

NM_000541.5

p.C147F

c.440G>T

8 papers

NM_000541.5

p.R175*

c.523C>T

6 papers

NM_000541.5

p.T125M

c.374C>T

6 papers

NM_000541.5

p.E306*

c.916G>T

5 papers

NM_000541.5

p.I76V

c.226A>G

5 papers

NM_000541.5

p.V403I

c.1207G>A

4 papers

NM_000541.5

p.S21S

c.63C>A

4 papers

NM_000541.5

p.V61Splc

c.181+1G>A

4 papers

NM_000541.5

p.A101T

c.301G>A