Varaico: Literature-Extracted Genetic Variants

Gene:TAX1BP1
Variant:p.S508A

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.S508A
c.1522T>G
Surrounding Variants
1 paper
NM_006024.7
p.D504N
c.1510G>A
1 paper
NM_006024.7
p.Q457R
c.1370A>G
1 paper
NM_006024.7
p.F453S
c.1358T>C
1 paper
NM_006024.7
p.D447H
c.1339G>C
1 paper
NM_006024.7
p.R441H
c.1322G>A
2 papers
NM_006024.7
p.T520A
c.1558A>G
1 paper
NM_006024.7
p.N539S
c.1616A>G
1 paper
NM_006024.7
p.N415_A416delFs
c.1245_1248del4
1 paper
NM_006024.7
p.E411D
c.1233A>C
1 paper
NM_006024.7
p.E411D
c.1233A>T
1 paper
NM_006024.7
p.E411Q
c.1231G>C
1 paper
NM_006024.7
p.A408V
c.1223C>T
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