Varaico: Literature-Extracted Genetic Variants

Gene:PNMA5
Variant:p.K272N

PNMA5

24 papers

RefSeq Summary

This gene encodes a member of the paraneoplastic Ma antigen protein family. These proteins have been implicated in the development of paraneoplastic disorders resulting from an immune response directe...

Pfam Domains

PNMA_Naa 1–92UCSCPNMA N-terminal RRM-like domain
PNMAaa 162–322UCSCPNMA

Gene Aliases

HGNC Name

PNMA family member 5

HGNC Alias Symbol

KIAA1934

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001184924.2
p.K272N
c.816A>T
Surrounding Variants
1 paper
NM_001184924.2
p.K272N
c.816A>C
1 paper
NM_001184924.2
p.R288H
c.863G>A
1 paper
NM_001184924.2
p.E307Q
c.919G>C
1 paper
NM_001184924.2
p.G313G
c.939G>T
1 paper
NM_001184924.2
p.F318Y
c.953T>A
1 paper
NM_001184924.2
p.R326*
c.976C>T
1 paper
NM_001184924.2
p.R213W
c.637C>T
1 paper
NM_001184924.2
p.P344_S345insTG
c.1030_1034ins6
1 paper
NM_001184924.2
p.R349W
c.1045C>T
1 paper
NM_001184924.2
p.A351T
c.1051G>A
1 paper
NM_001184924.2
p.G353V
c.1058G>T
1 paper
NM_001184924.2
p.P365T
c.1093C>A
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