Varaico: Literature-Extracted Genetic Variants

Gene:NPAP1

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
1–12 of 249 variants
5 papers
NM_018958.3
p.Q406E
c.1216C>G
3 papers
NM_018958.3
p.P34Q
c.101C>A
3 papers
NM_018958.3
p.G253R
c.757G>A
3 papers
NM_018958.3
p.G253R
c.757G>C
2 papers
NM_018958.3
p.R14H
c.41G>A
2 papers
NM_018958.3
p.R37Q
c.110G>A
2 papers
NM_018958.3
p.P44R
c.131C>G
2 papers
NM_018958.3
p.G49S
c.145G>A
2 papers
NM_018958.3
p.G49D
c.146G>A
2 papers
NM_018958.3
p.A78V
c.233C>T
2 papers
NM_018958.3
p.P86L
c.257C>T
2 papers
NM_018958.3
p.V114I
c.340G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."