Varaico: Literature-Extracted Genetic Variants

Gene:PNMA5

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
1–12 of 22 variants
1 paper
NM_001184924.2
p.A62T
c.184G>A
1 paper
NM_001184924.2
p.T72fs
c.214_215fs
1 paper
NM_001184924.2
p.R115insFs
c.344_345insTG
1 paper
NM_001184924.2
p.R115fs
c.343_344fs
1 paper
NM_001184924.2
p.S128I
c.383G>T
1 paper
NM_001184924.2
p.A136V
c.407C>T
1 paper
NM_001184924.2
p.K160E
c.478A>G
1 paper
NM_001184924.2
p.R213W
c.637C>T
1 paper
NM_001184924.2
p.K272N
c.816A>T
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
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