Varaico: Literature-Extracted Genetic Variants

Gene:BTBD17

BTBD17

37 papers

Pfam Domains

BTBaa 53–162UCSCBTB/POZ domain
BACKaa 169–270UCSCBTB And C-terminal Kelch
TRAF_BTBD17aa 311–470UCSCBTBD17 TRAF domain

Gene Aliases

HGNC Name

BTB domain containing 17

HGNC Alias Symbols

LGALS3BPL; BTBD17A; TANGO10A

Papers
RefSeq ID
Protein change
DNA change
1–12 of 44 variants
2 papers
NM_001080466.2
p.R52C
c.154C>T
2 papers
NM_001080466.2
p.R52H
c.155G>A
2 papers
NM_001080466.2
p.V69_Q70insFs
c.207_208insG
2 papers
NM_001080466.2
p.D117E
c.351C>G
2 papers
NM_001080466.2
p.D117E
c.351C>A
2 papers
NM_001080466.2
p.A163E
c.488C>A
2 papers
NM_001080466.2
p.G164E
c.491G>A
1 paper
NM_001080466.2
p.M18L
c.52A>T
1 paper
NM_001080466.2
p.M18L
c.52A>C
1 paper
NM_001080466.2
p.G36W
c.106G>T
1 paper
NM_001080466.2
p.H45R
c.134A>G
1 paper
NM_001080466.2
p.R58Q
c.173G>A
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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."