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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PPIC

PPIC

36 papers

RefSeq Summary

The protein encoded by this gene is a member of the peptidyl-prolyl cis-trans isomerase (PPIase)) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides ...

Pfam Domains

Pro_isomeraseaa 41–198UCSCCyclophilin type peptidyl-prolyl cis-trans isomerase/CLD

Gene Aliases

HGNC Name

peptidylprolyl isomerase C

HGNC Alias Symbol

CYPC

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 24 variants

3 papers

chr5:123029387 TC>T

NM_000943.5

p.D50delFs

c.148delC

Pro_isomerase

Exome: 0.7% (AC=10519, hom=53)Genome: 0.5% (AC=747, hom=3)70 overlapping SVs

3 papers

chr5:123025822 C>T

NM_000943.5

p.G158S

c.472G>A

Pro_isomerase

Exome: 0.6% (AC=8681, hom=35)Genome: 0.4% (AC=595, hom=3)69 overlapping SVs

3 papers

chr5:123023945 T>C

NM_000943.5

p.N190S

c.569A>G

Pro_isomerase

Exome: 30.5% (AC=446084, hom=73292)Genome: 23.2% (AC=35183, hom=5207)69 overlapping SVs

2 papers

chr5:123029386 A>AN

NM_000943.5

p.D50fs

c.148_149fs

Pro_isomerase

exact variant not in gnomAD70 overlapping SVs

2 papers

chr5:123028843 T>C

NM_000943.5

p.K86R

c.257A>G

Pro_isomerase

Exome: 1.9% (AC=27068, hom=486)Genome: 2.7% (AC=4040, hom=89)69 overlapping SVs

2 papers

chr5:123023984 T>A

NM_000943.5

p.E177V

c.530A>T

Pro_isomerase

Exome: 0.0% (AC=253, hom=3)Genome: 0.0% (AC=19, hom=0)69 overlapping SVs

1 paper

chr5:123036615 C>A

NM_000943.5

p.G4V

c.11G>T

Exome: 0.0% (AC=0, hom=0)Genome: n/a69 overlapping SVs

1 paper

chr5:123036514 C>T

NM_000943.5

p.A38T

c.112G>A

Exome: 0.0% (AC=0, hom=0)Genome: n/a69 overlapping SVs

1 paper

chr5:123029388 ATC>N

NM_000943.5

p.D50fs

c.148_149fs

Pro_isomerase

exact variant not in gnomAD70 overlapping SVs

1 paper

chr5:123029366 C>A

NM_000943.5

p.G57V

c.170G>T

Pro_isomerase

exact variant not in gnomAD70 overlapping SVs

1 paper

chr5:123029364 G>A

NM_000943.5

p.L58F

c.172C>T

Pro_isomerase

Exome: 0.0% (AC=2, hom=0)Genome: n/a70 overlapping SVs

1 paper

chr5:123029361 A>C

NM_000943.5

p.F59V

c.175T>G

Pro_isomerase

exact variant not in gnomAD70 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."