Varaico: Literature-Extracted Genetic Variants

Gene:JTB
Variant:p.P47Q

JTB

222 papers

Pfam Domains

JTBaa 37–143UCSCJumping translocation breakpoint protein (JTB)

Gene Aliases

HGNC Name

jumping translocation breakpoint

HGNC Alias Symbols

hJT; PAR

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006694.4
p.P47Q
c.140C>A
Surrounding Variants
1 paper
NM_006694.4
p.N45I
c.134A>T
1 paper
NM_006694.4
p.E52E
c.156A>G
1 paper
NM_006694.4
p.E58_E59insFs
c.174_175insT
1 paper
NM_006694.4
p.C60S
c.178T>A
1 paper
NM_006694.4
p.C60S
c.179G>C
1 paper
NM_006694.4
p.R67Q
c.200G>A
1 paper
NM_006694.4
p.E37Q
c.109G>C
2 papers
NM_006694.4
p.V34L
c.100G>T
2 papers
NM_006694.4
p.V34L
c.100G>C
1 paper
NM_006694.4
p.P33Fs
c.97_98delinsCFs
1 paper
NM_006694.4
p.E31E
c.93G>A
1 paper
NM_006694.4
p.E31A
c.92A>C
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