Varaico: Literature-Extracted Genetic Variants

Gene:JPT2
Variant:p.Q82*

JPT2

127 papers

Pfam Domains

JUPITERaa 2–61UCSCMicrotubule-Associated protein Jupiter

Gene Aliases

HGNC Name

Jupiter microtubule associated homolog 2

HGNC Previous Symbols

C16orf34; HN1L

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_144570.3
p.Q82*
c.244C>T
Surrounding Variants
1 paper
NM_144570.3
p.Q82R
c.245A>G
2 papers
NM_144570.3
p.R81Q
c.242G>A
1 paper
NM_144570.3
p.T80insFs
c.239_240insG
1 paper
NM_144570.3
p.T80insFs
c.238_239insG
1 paper
NM_144570.3
p.L84insFs
c.250_251insA
1 paper
NM_144570.3
p.L84insFs
c.251_252insA
1 paper
NM_144570.3
p.V78_L84del0
c.233_250del18
1 paper
NM_144570.3
p.T76P
c.226A>C
1 paper
NM_144570.3
p.E74A
c.221A>C
1 paper
NM_144570.3
p.G70V
c.209G>T
1 paper
NM_144570.3
p.F95delFs
c.283delT
1 paper
NM_144570.3
p.I94S
c.281T>G
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