Varaico: Literature-Extracted Genetic Variants

Gene:NPAP1
Variant:p.V1116A

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.V1116A
c.3347T>C
Surrounding Variants
1 paper
NM_018958.3
p.P1114L
c.3341C>T
1 paper
NM_018958.3
p.G1106D
c.3317G>A
1 paper
NM_018958.3
p.G1104E
c.3311G>A
1 paper
NM_018958.3
p.T1129fs
c.3385_3386fs
1 paper
NM_018958.3
p.Q1096H
c.3288G>C
1 paper
NM_018958.3
p.Q1096H
c.3288G>T
1 paper
NM_018958.3
p.S1136T
c.3406T>A
1 paper
NM_018958.3
p.S1136*
c.3407C>A
1 paper
NM_018958.3
p.S1136*
c.3407C>G
1 paper
NM_018958.3
p.T1138S
c.3412A>T
1 paper
NM_018958.3
p.T1138S
c.3413C>G
1 paper
NM_018958.3
p.H1139insFs
c.3416dupA
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