Varaico: Literature-Extracted Genetic Variants

Gene:NPAP1
Variant:p.V470A

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.V470A
c.1409T>C
Surrounding Variants
1 paper
NM_018958.3
p.P471S
c.1411C>T
1 paper
NM_018958.3
p.Q476H
c.1428G>C
1 paper
NM_018958.3
p.Q476H
c.1428G>T
1 paper
NM_018958.3
p.P459H
c.1376C>A
1 paper
NM_018958.3
p.G481E
c.1442G>A
1 paper
NM_018958.3
p.T457P
c.1369A>C
1 paper
NM_018958.3
p.V488I
c.1462G>A
1 paper
NM_018958.3
p.V488L
c.1462G>C
1 paper
NM_018958.3
p.V488L
c.1462G>T
1 paper
NM_018958.3
p.G489E
c.1466G>A
1 paper
NM_018958.3
p.K449N
c.1347A>C
1 paper
NM_018958.3
p.A491S
c.1471G>T
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