Varaico: Literature-Extracted Genetic Variants

Gene:BTBD17
Variant:p.R335H

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
Selected Variant
1 paper
NM_001080466.2
p.R335H
c.1004G>A
Surrounding Variants
1 paper
NM_001080466.2
p.D333D
c.999C>T
1 paper
NM_001080466.2
p.F339S
c.1016T>C
1 paper
NM_001080466.2
p.W321C
c.963G>T
1 paper
NM_001080466.2
p.W321C
c.963G>C
1 paper
NM_001080466.2
p.W364*
c.1091G>A
1 paper
NM_001080466.2
p.A294A
c.882C>T
1 paper
NM_001080466.2
p.R392Q
c.1175G>A
1 paper
NM_001080466.2
p.I255fs
c.763_764fs
1 paper
NM_001080466.2
p.A417fs
c.1249_1250fs
1 paper
NM_001080466.2
p.A251G
c.752C>G
1 paper
NM_001080466.2
p.Q419H
c.1257G>T
1 paper
NM_001080466.2
p.Q419H
c.1257G>C
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