Varaico: Literature-Extracted Genetic Variants

Gene:ARRB1
Variant:p.L104delFs

ARRB1

195 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 18–174UCSCArrestin (or S-antigen), N-terminal domain
Arrestin_Caa 193–356UCSCArrestin (or S-antigen), C-terminal domain

Gene Aliases

HGNC Name

arrestin beta 1

HGNC Previous Symbol

ARR1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004041.5
p.L104delFs
c.312delG
Surrounding Variants
1 paper
NM_004041.5
p.L104H
c.311T>A
1 paper
NM_004041.5
p.I105fs
c.313_314fs
1 paper
NM_004041.5
p.L100L
c.298C>T
1 paper
NM_004041.5
p.H111H
c.333C>T
1 paper
NM_004041.5
p.A112T
c.334G>A
1 paper
NM_004041.5
p.A112G
c.335C>G
1 paper
NM_004041.5
p.Y113H
c.337T>C
1 paper
NM_004041.5
p.P114P
c.342T>A
1 paper
NM_004041.5
p.F115I
c.343T>A
1 paper
NM_004041.5
p.N83I
c.248A>T
1 paper
NM_004041.5
p.V81M
c.241G>A
1 paper
NM_004041.5
p.F80S
c.239T>C
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