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.A390_G391insFs

c.1170_1171insT

Surrounding Variants

1 paper

NM_000541.5

p.G391G

c.1173A>G

1 paper

NM_000541.5

p.R384C

c.1150C>T

1 paper

NM_000541.5

p.A383_E392del10

c.1147_1175del30

1 paper

NM_000541.5

p.F382I

c.1144T>A

1 paper

NM_000541.5

p.D402E

c.1206C>A

1 paper

NM_000541.5

p.D402E

c.1206C>G

5 papers

NM_000541.5

p.V403I

c.1207G>A

1 paper

NM_000541.5

p.V378I

c.1132G>A

1 paper

NM_000541.5

p.V403A

c.1208T>C

3 papers

NM_000541.5

p.*406R

c.1216T>C

1 paper

NM_000541.5

p.*406G

c.1216T>G

1 paper

NM_000541.5

p.A368Splc

c.1103-2A>C