Varaico: Literature-Extracted Genetic Variants

Gene:TAX1BP1
Variant:p.Q336R

TAX1BP1

106 papers

RefSeq Summary

This gene encodes a HTLV-1 tax1 binding protein. The encoded protein interacts with TNFAIP3, and inhibits TNF-induced apoptosis by mediating the TNFAIP3 anti-apoptotic activity. Degradation of this pr...

Pfam Domains

SKICHaa 17–120UCSCSKICH domain
SKICHaa 17–120UCSCSKICH domain
CALCOCO1aa 124–416UCSCCalcium binding and coiled-coil domain (CALCOCO1) like
CALCOCO1aa 124–416UCSCCalcium binding and coiled-coil domain (CALCOCO1) like
Zn-C2H2_12aa 728–754UCSCAutophagy receptor zinc finger-C2H2 domain
Zn-C2H2_12aa 755–781UCSCAutophagy receptor zinc finger-C2H2 domain

Gene Aliases

HGNC Name

Tax1 binding protein 1

HGNC Alias Symbols

TXBP151; CALCOCO3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006024.7
p.Q336R
c.1007A>G
Surrounding Variants
1 paper
NM_006024.7
p.L341V
c.1021C>G
1 paper
NM_006024.7
p.Q326R
c.977A>G
5 papers
NM_006024.7
p.L307I
c.919T>A
1 paper
NM_006024.7
p.M298I
c.894G>A
1 paper
NM_006024.7
p.M298I
c.894G>C
1 paper
NM_006024.7
p.M298I
c.894G>T
1 paper
NM_006024.7
p.K284_V285Splc
c.853-1G>A
1 paper
NM_006024.7
p.T250A
c.748A>G
1 paper
NM_006024.7
p.I238T
c.713T>C
1 paper
NM_006024.7
p.F224delFs
c.671delT
1 paper
NM_006024.7
p.M215I
c.645G>A
1 paper
NM_006024.7
p.V383I
c.1147G>A
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