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.D204A

c.611A>C

Surrounding Variants

1 paper

NM_000541.5

p.L207delFs

c.619delC

1 paper

NM_000541.5

p.S203A

c.607T>G

1 paper

NM_000541.5

p.L207fs

c.619_620fs

1 paper

NM_000541.5

p.L207L

c.621G>T

1 paper

NM_000541.5

p.F200C

c.599T>G

1 paper

NM_000541.5

p.L209F

c.625C>T

1 paper

NM_000541.5

p.L209H

c.626T>A

1 paper

NM_000541.5

p.W198*

c.594G>A

1 paper

NM_000541.5

p.A210E

c.629C>A

2 papers

NM_000541.5

p.W198*

c.593G>A

4 papers

NM_000541.5

p.S212delFs

c.636delT

2 papers

NM_000541.5

p.L213fs

c.637_638fs