Varaico: Literature-Extracted Genetic Variants

Gene:NPAP1
Variant:p.T839I

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.T839I
c.2516C>T
Surrounding Variants
1 paper
NM_018958.3
p.Q837K
c.2509C>A
1 paper
NM_018958.3
p.P829L
c.2486C>T
1 paper
NM_018958.3
p.R849Q
c.2546G>A
1 paper
NM_018958.3
p.T827I
c.2480C>T
1 paper
NM_018958.3
p.P855S
c.2563C>T
1 paper
NM_018958.3
p.H862L
c.2585A>T
1 paper
NM_018958.3
p.A869A
c.2607C>G
1 paper
NM_018958.3
p.Q870L
c.2609A>T
1 paper
NM_018958.3
p.V807E
c.2420T>A
1 paper
NM_018958.3
p.F792F
c.2376C>T
1 paper
NM_018958.3
p.D791N
c.2371G>A
1 paper
NM_018958.3
p.P787P
c.2361C>A
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