Varaico: Literature-Extracted Genetic Variants

Gene:PNMA1
Variant:p.E339_A340del1

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.E339_A340del1
c.1016_1018delCCT
Surrounding Variants
1 paper
NM_006029.5
p.E341Q
c.1021G>C
1 paper
NM_006029.5
p.E339K
c.1015G>A
1 paper
NM_006029.5
p.A342A
c.1026C>G
1 paper
NM_006029.5
p.K334E
c.1000A>G
1 paper
NM_006029.5
p.L310F
c.928C>T
1 paper
NM_006029.5
p.Q307Q
c.921G>A
2 papers
NM_006029.5
p.Q293K
c.877C>A
1 paper
NM_006029.5
p.E292K
c.874G>A
1 paper
NM_006029.5
p.V275V
c.825G>A
1 paper
NM_006029.5
p.L261S
c.782T>C
1 paper
NM_006029.5
p.E259A
c.776A>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."