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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DCTPP1

DCTPP1

15 papers

RefSeq Summary

The protein encoded by this gene is dCTP pyrophosphatase, which converts dCTP to dCMP and inorganic pyrophosphate. The encoded protein also displays weak activity against dTTP and dATP, but none again...

Pfam Domains

MazG-likeaa 59–144UCSCMazG-like family

Gene Aliases

HGNC Name

dCTP pyrophosphatase 1

HGNC Alias Symbols

MGC5627; RS21C6; CDA03; XTP3TPA

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

2 papers

chr16:30424331 G>A

NM_024096.2

p.R139C

c.415C>T

MazG-like

Exome: 0.0% (AC=189, hom=0)Genome: 0.0% (AC=14, hom=0)9 overlapping SVs

2 papers

chr16:30424280 C>G

NM_024096.2

p.G156R

c.466G>C

Exome: 1.2% (AC=18211, hom=129)Genome: 1.0% (AC=1453, hom=11)9 overlapping SVs

2 papers

chr16:30424280 C>T

NM_024096.2

p.G156R

c.466G>A

exact variant not in gnomAD9 overlapping SVs

1 paper

chr16:30429136 TCG>N

NM_024096.2

p.R45fs

c.133_134fs

exact variant not in gnomAD9 overlapping SVs

1 paper

chr16:30424366 C>T

NM_024096.2

p.R127Q

c.380G>A

MazG-like

Exome: 0.0% (AC=41, hom=0)Genome: 0.0% (AC=5, hom=0)9 overlapping SVs

1 paper

chr16:30424342 C>T

NM_024096.2

p.R135H

c.404G>A

MazG-like

Exome: 0.0% (AC=24, hom=1)Genome: 0.0% (AC=7, hom=0)9 overlapping SVs

1 paper

chr16:30424330 C>A

NM_024096.2

p.R139L

c.416G>T

MazG-like

Exome: 0.0% (AC=308, hom=1)Genome: 0.0% (AC=48, hom=0)9 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."