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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SENP8

SENP8

16 papers

RefSeq Summary

This gene encodes a cysteine protease that is a member of the sentrin-specific protease family. The encoded protein is involved in processing and deconjugation of the ubiquitin-like protein termed, ne...

Pfam Domains

Peptidase_C48aa 25–212UCSCUlp1 protease family, C-terminal catalytic domain

Gene Aliases

HGNC Name

SUMO peptidase family member, NEDD8 specific

HGNC Previous Symbol

PRSC2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

2 papers

chr15:72140242 A>G

NM_145204.4

p.T207A

c.619A>G

Peptidase_C48

Exome: 99.5% (AC=1453292, hom=723403)Genome: 95.4% (AC=145355, hom=69729)15 overlapping SVs

1 paper

chr15:72139776 C>A

NM_145204.4

p.V51V

c.153C>A

Peptidase_C48

exact variant not in gnomAD15 overlapping SVs

1 paper

chr15:72139793 A>G

NM_145204.4

p.E57G

c.170A>G

Peptidase_C48

exact variant not in gnomAD15 overlapping SVs

1 paper

chr15:72139984 C>T

NM_145204.4

p.H121Y

c.361C>T

Peptidase_C48

Exome: 0.1% (AC=936, hom=0)Genome: 0.0% (AC=31, hom=0)15 overlapping SVs

1 paper

chr15:72140125 A>G

NM_145204.4

p.I168V

c.502A>G

Peptidase_C48

exact variant not in gnomAD15 overlapping SVs

1 paper

chr15:72140229 GA>G

NM_145204.4

p.K203delFs

c.609delA

Peptidase_C48

exact variant not in gnomAD15 overlapping SVs

1 paper

chr15:72140233 GAT>N

NM_145204.4

p.D204fs

c.610_611fs

Peptidase_C48

exact variant not in gnomAD15 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."