Varaico: Literature-Extracted Genetic Variants

Gene:NPAP1
Variant:p.V511I

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.V511I
c.1531G>A
Surrounding Variants
2 papers
NM_018958.3
p.V511F
c.1531G>T
1 paper
NM_018958.3
p.S518Y
c.1553C>A
1 paper
NM_018958.3
p.M519K
c.1556T>A
1 paper
NM_018958.3
p.P500H
c.1499C>A
1 paper
NM_018958.3
p.P524H
c.1571C>A
1 paper
NM_018958.3
p.P526A
c.1576C>G
1 paper
NM_018958.3
p.A491S
c.1471G>T
1 paper
NM_018958.3
p.G489E
c.1466G>A
1 paper
NM_018958.3
p.L533I
c.1597C>A
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
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