Varaico: Literature-Extracted Genetic Variants

Gene:NPAP1
Variant:p.A278V

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.A278V
c.833C>T
Surrounding Variants
1 paper
NM_018958.3
p.E279G
c.836A>G
1 paper
NM_018958.3
p.S289F
c.866C>T
1 paper
NM_018958.3
p.V267I
c.799G>A
1 paper
NM_018958.3
p.P293L
c.878C>T
1 paper
NM_018958.3
p.P262H
c.785C>A
2 papers
NM_018958.3
p.A261V
c.782C>T
1 paper
NM_018958.3
p.P295L
c.884C>T
1 paper
NM_018958.3
p.G299R
c.895G>A
1 paper
NM_018958.3
p.G299R
c.895G>C
1 paper
NM_018958.3
p.K300Q
c.898A>C
1 paper
NM_018958.3
p.M302I
c.906G>A
1 paper
NM_018958.3
p.G253E
c.758G>A
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