Varaico: Literature-Extracted Genetic Variants

Gene:PIH1D2
Variant:p.L184ins1

PIH1D2

18 papers

Pfam Domains

PIH1aa 19–168UCSCPIH1 N-terminal domain
PIH1_CSaa 223–315UCSCPIH1 CS-like domain

Gene Aliases

HGNC Name

PIH1 domain containing 2

HGNC Alias Symbol

DNAAF15

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_138789.4
p.L184ins1
c.551_552insTTT
Surrounding Variants
1 paper
NM_138789.4
p.L184insFs
c.551_552ins10
1 paper
NM_138789.4
p.T185fs
c.553_554fs
1 paper
NM_138789.4
p.I218fs
c.652_653fs
1 paper
NM_138789.4
p.I218delFs
c.654delT
1 paper
NM_138789.4
p.S268G
c.802A>G
1 paper
NM_138789.4
p.S158T
c.473G>C
1 paper
NM_138789.4
p.N126fs
c.376_377fs
4 papers
NM_138789.4
p.A117V
c.350C>T
1 paper
NM_138789.4
p.D113D
c.339T>C
1 paper
NM_138789.4
p.A102D
c.305C>A
1 paper
NM_138789.4
p.S100P
c.298T>C
1 paper
NM_138789.4
p.E98D
c.294G>T
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