Varaico: Literature-Extracted Genetic Variants

Gene:NPAP1
Variant:p.P75S

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.P75S
c.223C>T
Surrounding Variants
1 paper
NM_018958.3
p.R76Q
c.227G>A
1 paper
NM_018958.3
p.C72*
c.216T>A
2 papers
NM_018958.3
p.A78V
c.233C>T
1 paper
NM_018958.3
p.A80T
c.238G>A
1 paper
NM_018958.3
p.K69T
c.206A>C
1 paper
NM_018958.3
p.A67S
c.199G>T
1 paper
NM_018958.3
p.V66F
c.196G>T
1 paper
NM_018958.3
p.V84D
c.251T>A
1 paper
NM_018958.3
p.L85V
c.253C>G
2 papers
NM_018958.3
p.P86L
c.257C>T
1 paper
NM_018958.3
p.S63C
c.187A>T
1 paper
NM_018958.3
p.A61E
c.182C>A
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