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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRIMA1

Variant:p.S140S

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

2 papers

chr14:93721486 C>T

NM_178013.4

p.S140S

c.420G>A

PRIMA1

Exome: 63.3% (AC=924802, hom=296338)Genome: 58.2% (AC=88431, hom=26673)7 overlapping SVs

Surrounding Variants

1 paper

chr14:93721455 C>T

NM_178013.4

p.A151T

c.451G>A

PRIMA1

Exome: 0.0% (AC=40, hom=0)Genome: 0.0% (AC=3, hom=0)7 overlapping SVs

1 paper

chr14:93721527 C>T

NM_178013.4

p.E127K

c.379G>A

PRIMA1

Exome: 0.0% (AC=24, hom=0)Genome: 0.0% (AC=1, hom=0)7 overlapping SVs

1 paper

chr14:93721536 T>TC

NM_178013.4

p.L123insFs

c.369dupG

PRIMA1

exact variant not in gnomAD7 overlapping SVs

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