Varaico: Literature-Extracted Genetic Variants

Gene:TNIP1
Variant:p.D321V

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.D321V
c.962A>T
Surrounding Variants
1 paper
NM_006058.5
p.R325Q
c.974G>A
1 paper
NM_006058.5
p.E315A
c.944A>C
1 paper
NM_006058.5
p.E315*
c.943G>T
1 paper
NM_006058.5
p.Q329*
c.985C>T
1 paper
NM_006058.5
p.E332Q
c.994G>C
2 papers
NM_006058.5
p.Q333P
c.998A>C
1 paper
NM_006058.5
p.E337V
c.1010A>T
1 paper
NM_006058.5
p.R339H
c.1016G>A
1 paper
NM_006058.5
p.Q340E
c.1018C>G
2 papers
NM_006058.5
p.Q346P
c.1037A>C
1 paper
NM_006058.5
p.T350I
c.1049C>T
1 paper
NM_006058.5
p.R356Q
c.1067G>A
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