Varaico: Literature-Extracted Genetic Variants

Gene:NPAP1
Variant:p.G236R

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.G236R
c.706G>C
Surrounding Variants
1 paper
NM_018958.3
p.E235*
c.703G>T
1 paper
NM_018958.3
p.M239I
c.717G>A
1 paper
NM_018958.3
p.M239I
c.717G>C
1 paper
NM_018958.3
p.M239I
c.717G>T
1 paper
NM_018958.3
p.S241N
c.722G>A
1 paper
NM_018958.3
p.A225V
c.674C>T
1 paper
NM_018958.3
p.E223E
c.669G>A
3 papers
NM_018958.3
p.G253R
c.757G>A
3 papers
NM_018958.3
p.G253R
c.757G>C
1 paper
NM_018958.3
p.G253E
c.758G>A
1 paper
NM_018958.3
p.S217S
c.651A>G
1 paper
NM_018958.3
p.K215T
c.644A>C
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."