Varaico: Literature-Extracted Genetic Variants

Gene:NPAP1
Variant:p.L916M

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.L916M
c.2746C>A
Surrounding Variants
1 paper
NM_018958.3
p.G917A
c.2750G>C
1 paper
NM_018958.3
p.S913F
c.2738C>T
1 paper
NM_018958.3
p.D905N
c.2713G>A
1 paper
NM_018958.3
p.G927S
c.2779G>A
1 paper
NM_018958.3
p.A903D
c.2708C>A
1 paper
NM_018958.3
p.A903V
c.2708C>T
1 paper
NM_018958.3
p.T929P
c.2785A>C
1 paper
NM_018958.3
p.P931T
c.2791C>A
1 paper
NM_018958.3
p.I896I
c.2688C>A
1 paper
NM_018958.3
p.S937N
c.2810G>A
1 paper
NM_018958.3
p.G944V
c.2831G>T
1 paper
NM_018958.3
p.Q870L
c.2609A>T
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