Varaico: Literature-Extracted Genetic Variants

Gene:PRIMA1
Variant:p.S103F

PRIMA1

25 papers

RefSeq Summary

The product of this gene functions to organize acetylcholinesterase (AChE) into tetramers, and to anchor AChE at neural cell membranes. [provided by RefSeq, Nov 2008].

Pfam Domains

PRIMA1aa 1–153UCSCProline-rich membrane anchor 1

Gene Aliases

HGNC Name

proline rich membrane anchor 1

HGNC Alias Name

membrane anchor of acetylcholinesterase

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_178013.4
p.S103F
c.308C>T
Surrounding Variants
1 paper
NM_178013.4
p.V105M
c.313G>A
1 paper
NM_178013.4
p.A98V
c.293C>T
1 paper
NM_178013.4
p.C114S
c.340T>A
1 paper
NM_178013.4
p.C114S
c.341G>C
1 paper
NM_178013.4
p.K119K
c.357A>G
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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."