Varaico: Literature-Extracted Genetic Variants

Gene:TNIP1

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
1–12 of 130 variants
7 papers
NM_006058.5
p.D472N
c.1414G>A
4 papers
NM_006058.5
p.P151A
c.451C>G
3 papers
NM_006058.5
p.M577L
c.1729A>T
3 papers
NM_006058.5
p.M577L
c.1729A>C
2 papers
NM_006058.5
p.G178S
c.532G>A
2 papers
NM_006058.5
p.A237_L240delFs
c.711_718del8
2 papers
NM_006058.5
p.Q333P
c.998A>C
2 papers
NM_006058.5
p.Q346P
c.1037A>C
2 papers
NM_006058.5
p.E425Q
c.1273G>C
2 papers
NM_006058.5
p.D472A
c.1415A>C
2 papers
NM_006058.5
p.E476K
c.1426G>A
2 papers
NM_006058.5
p.G563V
c.1688G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."