Varaico: Literature-Extracted Genetic Variants

Gene:NPAP1
Variant:p.Q611Q

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.Q611Q
c.1833G>A
Surrounding Variants
1 paper
NM_018958.3
p.P614T
c.1840C>A
1 paper
NM_018958.3
p.P614fs
c.1840_1841fs
1 paper
NM_018958.3
p.P614P
c.1842G>A
1 paper
NM_018958.3
p.G615R
c.1843G>A
1 paper
NM_018958.3
p.G615R
c.1843G>C
1 paper
NM_018958.3
p.R596G
c.1786A>G
2 papers
NM_018958.3
p.S634R
c.1900A>C
2 papers
NM_018958.3
p.S634G
c.1900A>G
1 paper
NM_018958.3
p.S634C
c.1900A>T
2 papers
NM_018958.3
p.S634R
c.1902T>A
2 papers
NM_018958.3
p.S634R
c.1902T>G
1 paper
NM_018958.3
p.S584T
c.1750T>A
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."