Varaico: Literature-Extracted Genetic Variants

Gene:NPAP1
Variant:p.P573T

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
2 papers
NM_018958.3
p.P573T
c.1717C>A
Surrounding Variants
1 paper
NM_018958.3
p.V571A
c.1712T>C
2 papers
NM_018958.3
p.A570V
c.1709C>T
1 paper
NM_018958.3
p.N577T
c.1730A>C
1 paper
NM_018958.3
p.M578T
c.1733T>C
1 paper
NM_018958.3
p.M578I
c.1734G>A
1 paper
NM_018958.3
p.M578I
c.1734G>C
1 paper
NM_018958.3
p.M578I
c.1734G>T
1 paper
NM_018958.3
p.A582D
c.1745C>A
1 paper
NM_018958.3
p.S562F
c.1685C>T
1 paper
NM_018958.3
p.S584T
c.1750T>A
1 paper
NM_018958.3
p.A561T
c.1681G>A
1 paper
NM_018958.3
p.N560K
c.1680C>G
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