Varaico: Literature-Extracted Genetic Variants

Gene:NPAP1
Variant:p.N761S

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.N761S
c.2282A>G
Surrounding Variants
1 paper
NM_018958.3
p.V753F
c.2257G>T
1 paper
NM_018958.3
p.A750S
c.2248G>T
1 paper
NM_018958.3
p.K773N
c.2319A>C
1 paper
NM_018958.3
p.K773N
c.2319A>T
1 paper
NM_018958.3
p.P749S
c.2245C>T
2 papers
NM_018958.3
p.A776S
c.2326G>T
1 paper
NM_018958.3
p.P780P
c.2340G>A
1 paper
NM_018958.3
p.A740S
c.2218G>T
1 paper
NM_018958.3
p.P787P
c.2361C>A
1 paper
NM_018958.3
p.D791N
c.2371G>A
1 paper
NM_018958.3
p.F792F
c.2376C>T
1 paper
NM_018958.3
p.Y724F
c.2171A>T
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