Varaico: Literature-Extracted Genetic Variants

Gene:NPAP1
Variant:p.E170K

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.E170K
c.508G>A
Surrounding Variants
1 paper
NM_018958.3
p.R177K
c.530G>A
1 paper
NM_018958.3
p.K162N
c.486G>T
1 paper
NM_018958.3
p.T178fs
c.532_533fs
1 paper
NM_018958.3
p.R159T
c.476G>C
1 paper
NM_018958.3
p.R158K
c.473G>A
1 paper
NM_018958.3
p.S182T
c.545G>C
1 paper
NM_018958.3
p.G183R
c.547G>A
1 paper
NM_018958.3
p.G183R
c.547G>C
1 paper
NM_018958.3
p.E155K
c.463G>A
1 paper
NM_018958.3
p.S186T
c.556T>A
1 paper
NM_018958.3
p.A153V
c.458C>T
2 papers
NM_018958.3
p.W152*
c.456G>A
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