Varaico: Literature-Extracted Genetic Variants

Gene:NPAP1
Variant:p.L127L

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.L127L
c.379C>T
Surrounding Variants
1 paper
NM_018958.3
p.P130S
c.388C>T
1 paper
NM_018958.3
p.M122I
c.366G>A
1 paper
NM_018958.3
p.M122I
c.366G>C
1 paper
NM_018958.3
p.M122I
c.366G>T
2 papers
NM_018958.3
p.A134V
c.401C>T
2 papers
NM_018958.3
p.V114I
c.340G>A
2 papers
NM_018958.3
p.E150K
c.448G>A
1 paper
NM_018958.3
p.R103Q
c.308G>A
1 paper
NM_018958.3
p.A102T
c.304G>A
1 paper
NM_018958.3
p.W152R
c.454T>A
1 paper
NM_018958.3
p.W152R
c.454T>C
2 papers
NM_018958.3
p.W152*
c.455G>A
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