Varaico: Literature-Extracted Genetic Variants

Gene:TNIP1
Variant:p.A237_L240delFs

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.A237_L240delFs
c.711_718del8
Surrounding Variants
1 paper
NM_006058.5
p.L240L
c.720G>A
1 paper
NM_006058.5
p.A237G
c.710C>G
1 paper
NM_006058.5
p.Q235*
c.703C>T
1 paper
NM_006058.5
p.R233L
c.698G>T
1 paper
NM_006058.5
p.E231K
c.691G>A
1 paper
NM_006058.5
p.K217E
c.649A>G
1 paper
NM_006058.5
p.L215fs
c.643_644fs
1 paper
NM_006058.5
p.Q214K
c.640C>A
1 paper
NM_006058.5
p.T210P
c.628A>C
1 paper
NM_006058.5
p.G262W
c.784G>T
1 paper
NM_006058.5
p.Q280P
c.839A>C
1 paper
NM_006058.5
p.R204H
c.611G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."