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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PFDN2

PFDN2

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

1 paper

chr1:161118025 A>T

NM_012394.4

p.M1K

c.2T>A

exact variant not in gnomAD229 overlapping SVs

1 paper

chr1:161102359 T>C

NM_012394.4

p.N31S

c.92A>G

Prefoldin_2

Exome: 0.0% (AC=154, hom=0)Genome: 0.0% (AC=22, hom=0)230 overlapping SVs

1 paper

chr1:161102317 G>A

NM_012394.4

p.A45V

c.134C>T

Prefoldin_2

exact variant not in gnomAD230 overlapping SVs

1 paper

chr1:161102167 C>T

NM_012394.4

p.V57M

c.169G>A

Prefoldin_2

exact variant not in gnomAD230 overlapping SVs

1 paper

chr1:161102148 T>C

NM_012394.4

p.E63G

c.188A>G

Prefoldin_2

exact variant not in gnomAD230 overlapping SVs

1 paper

chr1:161102122 G>A

NM_012394.4

p.R72C

c.214C>T

Prefoldin_2

Exome: 0.0% (AC=5, hom=0)Genome: 0.0% (AC=4, hom=0)230 overlapping SVs

1 paper

chr1:161102121 C>T

NM_012394.4

p.R72H

c.215G>A

Prefoldin_2

Exome: 0.0% (AC=13, hom=0)Genome: 0.0% (AC=4, hom=0)230 overlapping SVs

1 paper

chr1:161102094 C>T

NM_012394.4

p.R81Q

c.242G>A

Prefoldin_2

Exome: 0.0% (AC=36, hom=0)Genome: 0.0% (AC=5, hom=0)230 overlapping SVs

1 paper

chr1:161102071 C>T

NM_012394.4

p.A89T

c.265G>A

Prefoldin_2

Exome: 0.0% (AC=262, hom=0)Genome: 0.0% (AC=14, hom=0)230 overlapping SVs

1 paper

chr1:161100774 C>T

NM_012394.4

p.R125H

c.374G>A

Prefoldin_2

Exome: 0.0% (AC=16, hom=0)Genome: 0.0% (AC=2, hom=0)230 overlapping SVs

1 paper

chr1:161100735 T>C

NM_012394.4

p.N138S

c.413A>G

Exome: 0.0% (AC=198, hom=0)Genome: 0.0% (AC=19, hom=0)230 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."