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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PFDN2

Variant:p.M1K

PFDN2

1q23.3 (UCSC)OMIM GTEx

18 papers

RefSeq Summary

This gene encodes a member of the prefoldin beta subunit family. The encoded protein is one of six subunits of prefoldin, a molecular chaperone complex that binds and stabilizes newly synthesized poly...

Pfam Domains

Prefoldin_2aa 24–129UCSCPrefoldin subunit

Gene Aliases

HGNC Name

prefoldin subunit 2

HGNC Previous Name

prefoldin 2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr1:161118025 A>T

NM_012394.4

p.M1K

c.2T>A

exact variant not in gnomAD229 overlapping SVs

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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."