Varaico: Literature-Extracted Genetic Variants

Gene:JPT2
Variant:p.E164K

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
2 papers
NM_144570.3
p.E164K
c.490G>A
Surrounding Variants
1 paper
NM_144570.3
p.E164Q
c.490G>C
2 papers
NM_144570.3
p.E164A
c.491A>C
1 paper
NM_144570.3
p.E164D
c.492G>C
1 paper
NM_144570.3
p.E164D
c.492G>T
1 paper
NM_144570.3
p.R170W
c.508C>T
1 paper
NM_144570.3
p.R172H
c.515G>A
1 paper
NM_144570.3
p.A148T
c.442G>A
1 paper
NM_144570.3
p.A148S
c.442G>T
1 paper
NM_144570.3
p.P180L
c.539C>T
1 paper
NM_144570.3
p.G143R
c.427G>C
1 paper
NM_144570.3
p.S186G
c.556A>G
1 paper
NM_144570.3
p.Y190F
c.569A>T
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