Varaico: Literature-Extracted Genetic Variants

Gene:PITHD1
Variant:p.D132V

PITHD1

20 papers

Pfam Domains

PITHaa 21–193UCSCPITH domain

Gene Aliases

HGNC Name

PITH domain containing 1

HGNC Previous Symbol

C1orf128

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020362.5
p.D132V
c.395A>T
Surrounding Variants
1 paper
NM_020362.5
p.D132N
c.394G>A
1 paper
NM_020362.5
p.K142Splc
c.426-48A>G
1 paper
NM_020362.5
p.T164R
c.491C>G
1 paper
NM_020362.5
p.T164M
c.491C>T
1 paper
NM_020362.5
p.E178_L179Splc
c.534+1G>T
1 paper
NM_020362.5
p.R181*
c.541C>T
1 paper
NM_020362.5
p.R181Q
c.542G>A
1 paper
NM_020362.5
p.H182R
c.545A>G
1 paper
NM_020362.5
p.N194S
c.581A>G
1 paper
NM_020362.5
p.G95E
c.284G>A
1 paper
NM_020362.5
p.I93T
c.278T>C
1 paper
NM_020362.5
p.E75G
c.224A>G
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