Varaico: Literature-Extracted Genetic Variants

Gene:PRIMA1
Variant:p.A22A

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.A22A
c.66G>A
Surrounding Variants
1 paper
NM_178013.4
p.P25L
c.74C>T
1 paper
NM_178013.4
p.P25P
c.75G>A
2 papers
NM_178013.4
p.Q31_V32Splc
c.93+2T>C
1 paper
NM_178013.4
p.P37S
c.109C>T
1 paper
NM_178013.4
p.D46E
c.138C>G
1 paper
NM_178013.4
p.D46E
c.138C>A
1 paper
NM_178013.4
p.S47T
c.140G>C
1 paper
NM_178013.4
p.P59Q
c.176C>A
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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."