Varaico: Literature-Extracted Genetic Variants

Gene:NPAP1
Variant:p.G253R

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
3 papers
NM_018958.3
p.G253R
c.757G>C
Surrounding Variants
3 papers
NM_018958.3
p.G253R
c.757G>A
1 paper
NM_018958.3
p.G253E
c.758G>A
2 papers
NM_018958.3
p.A261V
c.782C>T
1 paper
NM_018958.3
p.P262H
c.785C>A
1 paper
NM_018958.3
p.S241N
c.722G>A
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.V267I
c.799G>A
1 paper
NM_018958.3
p.G236R
c.706G>C
1 paper
NM_018958.3
p.E235*
c.703G>T
1 paper
NM_018958.3
p.A278V
c.833C>T
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