Varaico: Literature-Extracted Genetic Variants

Gene:TNIP1
Variant:p.P553L

TNIP1

186 papers

RefSeq Summary

This gene encodes an A20-binding protein which plays a role in autoimmunity and tissue homeostasis through the regulation of nuclear factor kappa-B activation. Mutations in this gene have been associa...

Pfam Domains

TNIP1_Naa 24–71UCSCTNFAIP3-interacting protein 1, N-terminal domain

Gene Aliases

HGNC Name

TNFAIP3 interacting protein 1

HGNC Alias Symbols

KIAA0113; ABIN-1; VAN

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006058.5
p.P553L
c.1658C>T
Surrounding Variants
1 paper
NM_006058.5
p.Y552Y
c.1656C>T
1 paper
NM_006058.5
p.Y552F
c.1655A>T
1 paper
NM_006058.5
p.G546W
c.1636G>T
1 paper
NM_006058.5
p.G546R
c.1636G>C
1 paper
NM_006058.5
p.G546R
c.1636G>A
2 papers
NM_006058.5
p.G563V
c.1688G>T
1 paper
NM_006058.5
p.E542K
c.1624G>A
3 papers
NM_006058.5
p.M577L
c.1729A>T
3 papers
NM_006058.5
p.M577L
c.1729A>C
1 paper
NM_006058.5
p.M579K
c.1736T>A
1 paper
NM_006058.5
p.P583L
c.1748C>T
1 paper
NM_006058.5
p.R589H
c.1766G>A
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