Varaico: Literature-Extracted Genetic Variants

Gene:TNIP1
Variant:p.D472A

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
2 papers
NM_006058.5
p.D472A
c.1415A>C
Surrounding Variants
1 paper
NM_006058.5
p.D472V
c.1415A>T
7 papers
NM_006058.5
p.D472N
c.1414G>A
1 paper
NM_006058.5
p.F469Fs
c.1407delinsGCFs
2 papers
NM_006058.5
p.E476K
c.1426G>A
1 paper
NM_006058.5
p.V466fs
c.1396_1397fs
1 paper
NM_006058.5
p.R475_R480del0
c.1425_1439del15
1 paper
NM_006058.5
p.R475_R480del6
c.1423_1439del18
1 paper
NM_006058.5
p.E485G
c.1454A>G
1 paper
NM_006058.5
p.A499A
c.1497C>T
1 paper
NM_006058.5
p.L521R
c.1562T>G
1 paper
NM_006058.5
p.K529_A530Splc
c.1587+2T>C
1 paper
NM_006058.5
p.V456insFs
c.1368dupC
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