Varaico: Literature-Extracted Genetic Variants

Gene:NPAP1
Variant:p.G1106D

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.G1106D
c.3317G>A
Surrounding Variants
1 paper
NM_018958.3
p.G1104E
c.3311G>A
1 paper
NM_018958.3
p.P1114L
c.3341C>T
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.V1116A
c.3347T>C
1 paper
NM_018958.3
p.G1090D
c.3269G>A
1 paper
NM_018958.3
p.Y1087H
c.3259T>C
1 paper
NM_018958.3
p.A1086V
c.3257C>T
2 papers
NM_018958.3
p.A1086T
c.3256G>A
1 paper
NM_018958.3
p.A1086del1
c.3256_3257delGCC
1 paper
NM_018958.3
p.T1129fs
c.3385_3386fs
1 paper
NM_018958.3
p.S1083Y
c.3248C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."