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.N309fs

c.925_926fs

Surrounding Variants

4 papers

NM_000541.5

p.N309fs

c.925_926fs

16 papers

NM_000541.5

p.N309delFs

c.926delA

1 paper

NM_000541.5

p.D307_T308del2

c.919_923del6

6 papers

NM_000541.5

p.E306*

c.916G>T

1 paper

NM_000541.5

p.I303M

c.909C>G

1 paper

NM_000541.5

p.D300A

c.899A>C

1 paper

NM_000541.5

p.D300G

c.899A>G

1 paper

NM_000541.5

p.L299_D300insT

c.895_899ins3

1 paper

NM_000541.5

p.A298_L299insTG

c.892_896ins6

1 paper

NM_000541.5

p.R295*

c.883A>T

13 papers

NM_000541.5

p.R292*

c.874C>T

1 paper

NM_000541.5

p.L288fs

c.862_863fs