Varaico: Literature-Extracted Genetic Variants

Gene:NPAP1
Variant:p.R37Q

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
2 papers
NM_018958.3
p.R37Q
c.110G>A
Surrounding Variants
1 paper
NM_018958.3
p.G36C
c.106G>T
1 paper
NM_018958.3
p.P34P
c.102G>A
3 papers
NM_018958.3
p.P34Q
c.101C>A
1 paper
NM_018958.3
p.D31D
c.93C>T
2 papers
NM_018958.3
p.P44R
c.131C>G
1 paper
NM_018958.3
p.R30G
c.88C>G
1 paper
NM_018958.3
p.R30W
c.88C>T
1 paper
NM_018958.3
p.P27L
c.80C>T
1 paper
NM_018958.3
p.R48C
c.142C>T
2 papers
NM_018958.3
p.G49S
c.145G>A
2 papers
NM_018958.3
p.G49D
c.146G>A
1 paper
NM_018958.3
p.G49V
c.146G>T
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