Varaico: Literature-Extracted Genetic Variants

Gene:PNMA1
Variant:p.S194C

PNMA1

86 papers

RefSeq Summary

This gene encodes a neuron- and testis-specific protein that is also expressed in some paraneoplastic syndromes affecting the nervous system. Some patients with neurologic disorders develop antibodies...

Pfam Domains

PNMA_Naa 1–91UCSCPNMA N-terminal RRM-like domain
PNMAaa 164–325UCSCPNMA

Gene Aliases

HGNC Name

PNMA family member 1

HGNC Alias Symbol

MA1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006029.5
p.S194C
c.581C>G
Surrounding Variants
1 paper
NM_006029.5
p.S194S
c.582C>T
1 paper
NM_006029.5
p.V193G
c.578T>G
1 paper
NM_006029.5
p.G208D
c.623G>A
2 papers
NM_006029.5
p.A210T
c.628G>A
1 paper
NM_006029.5
p.S219C
c.656C>G
1 paper
NM_006029.5
p.D168E
c.504C>G
1 paper
NM_006029.5
p.D168E
c.504C>A
1 paper
NM_006029.5
p.D168V
c.503A>T
1 paper
NM_006029.5
p.D168A
c.503A>C
1 paper
NM_006029.5
p.K159N
c.477G>T
1 paper
NM_006029.5
p.K159N
c.477G>C
1 paper
NM_006029.5
p.A232V
c.695C>T
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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."