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.K18M

c.53A>T

Surrounding Variants

1 paper

NM_000541.5

p.K18*

c.52A>T

1 paper

NM_000541.5

p.K18K

c.54G>A

1 paper

NM_000541.5

p.K19M

c.56A>T

1 paper

NM_000541.5

p.I16T

c.47T>C

1 paper

NM_000541.5

p.S21P

c.61T>C

1 paper

NM_000541.5

p.S21A

c.61T>G

4 papers

NM_000541.5

p.S21S

c.63C>A

1 paper

NM_000541.5

p.R22R

c.64C>A

1 paper

NM_000541.5

p.D23N

c.67G>A

1 paper

NM_000541.5

p.D23fs

c.67_68fs

1 paper

NM_000541.5

p.E11D

c.33A>T

3 papers

NM_000541.5

p.S25*

c.74C>A