Varaico: Literature-Extracted Genetic Variants

Gene:NPAP1
Variant:p.S331T

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.S331T
c.991T>A
Surrounding Variants
1 paper
NM_018958.3
p.S331S
c.993G>T
1 paper
NM_018958.3
p.K329R
c.986A>G
1 paper
NM_018958.3
p.P337L
c.1010C>T
1 paper
NM_018958.3
p.R324W
c.970A>T
1 paper
NM_018958.3
p.S341P
c.1021T>C
1 paper
NM_018958.3
p.P343A
c.1027C>G
1 paper
NM_018958.3
p.D347Y
c.1039G>T
1 paper
NM_018958.3
p.D347E
c.1041T>A
1 paper
NM_018958.3
p.R348*
c.1042C>T
1 paper
NM_018958.3
p.E305G
c.914A>G
1 paper
NM_018958.3
p.M302I
c.906G>A
1 paper
NM_018958.3
p.C359*
c.1077C>A
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