Varaico: Literature-Extracted Genetic Variants

Gene:NPAP1
Variant:p.W152R

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.W152R
c.454T>C
Surrounding Variants
1 paper
NM_018958.3
p.W152R
c.454T>A
2 papers
NM_018958.3
p.W152*
c.455G>A
2 papers
NM_018958.3
p.W152*
c.456G>A
1 paper
NM_018958.3
p.A153V
c.458C>T
2 papers
NM_018958.3
p.E150K
c.448G>A
1 paper
NM_018958.3
p.E155K
c.463G>A
1 paper
NM_018958.3
p.R158K
c.473G>A
1 paper
NM_018958.3
p.R159T
c.476G>C
1 paper
NM_018958.3
p.K162N
c.486G>T
2 papers
NM_018958.3
p.A134V
c.401C>T
1 paper
NM_018958.3
p.E170K
c.508G>A
1 paper
NM_018958.3
p.P130S
c.388C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."