Varaico: Literature-Extracted Genetic Variants

Gene:NPAP1
Variant:p.G539R

NPAP1

163 papers

RefSeq Summary

This intronless retrogene is located in the Prader-Willi syndrome region on chromosome 15. This gene exhibits tissue-specific imprinting. Expression in adult testis and brain is biallelic, while expre...

Pfam Domains

POM121aa 154–383UCSCPOM121 family

Gene Aliases

HGNC Name

nuclear pore associated protein 1

HGNC Previous Symbol

C15orf2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018958.3
p.G539R
c.1615G>A
Surrounding Variants
1 paper
NM_018958.3
p.G539R
c.1615G>C
1 paper
NM_018958.3
p.S541A
c.1621T>G
1 paper
NM_018958.3
p.L533I
c.1597C>A
1 paper
NM_018958.3
p.P526A
c.1576C>G
1 paper
NM_018958.3
p.P524H
c.1571C>A
1 paper
NM_018958.3
p.S555delins
c.1664_1665delinsTA
1 paper
NM_018958.3
p.T556A
c.1666A>G
1 paper
NM_018958.3
p.M519K
c.1556T>A
1 paper
NM_018958.3
p.S518Y
c.1553C>A
1 paper
NM_018958.3
p.N560Y
c.1678A>T
1 paper
NM_018958.3
p.N560K
c.1680C>G
1 paper
NM_018958.3
p.A561T
c.1681G>A
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