Varaico: Literature-Extracted Genetic Variants

Gene:NPAP1
Variant:p.A398A

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.A398A
c.1194C>G
Surrounding Variants
1 paper
NM_018958.3
p.V405delFs
c.1214delT
5 papers
NM_018958.3
p.Q406E
c.1216C>G
1 paper
NM_018958.3
p.E383D
c.1149G>T
1 paper
NM_018958.3
p.R380R
c.1140A>G
1 paper
NM_018958.3
p.S418P
c.1252T>C
1 paper
NM_018958.3
p.P427T
c.1279C>A
1 paper
NM_018958.3
p.P427H
c.1280C>A
1 paper
NM_018958.3
p.D428_L429delFs
c.1284_1285delCT
1 paper
NM_018958.3
p.L429fs
c.1285_1286fs
1 paper
NM_018958.3
p.A433V
c.1298C>T
1 paper
NM_018958.3
p.G435*
c.1303G>T
1 paper
NM_018958.3
p.L437F
c.1309C>T
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