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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DCTD

Variant:p.P16A

DCTD

35 papers

RefSeq Summary

The protein encoded by this gene catalyzes the deamination of dCMP to dUMP, the nucleotide substrate for thymidylate synthase. The encoded protein is allosterically activated by dCTP and inhibited by ...

Pfam Domains

dCMP_cyt_deam_1aa 13–129UCSCCytidine and deoxycytidylate deaminase zinc-binding region

Gene Aliases

HGNC Name

dCMP deaminase

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr4:182915523 G>C

NM_001921.3

p.P16A

c.46C>G

dCMP_cyt_deam_1

Exome: 0.0% (AC=4, hom=0)Genome: 0.0% (AC=1, hom=0)31 overlapping SVs

Surrounding Variants

1 paper

chr4:182915534 T>G

NM_001921.3

p.Y12S

c.35A>C

Exome: 0.0% (AC=1, hom=0)Genome: n/a31 overlapping SVs

1 paper

chr4:182915542 C>A

NM_001921.3

p.R9R

c.27G>T

exact variant not in gnomAD31 overlapping SVs

1 paper

chr4:182915547 T>G

NM_001921.3

p.K8Q

c.22A>C

exact variant not in gnomAD31 overlapping SVs

1 paper

chr4:182915555 G>T

NM_001921.3

p.S5Y

c.14C>A

exact variant not in gnomAD31 overlapping SVs

1 paper

chr4:182915567 A>G

NM_001921.3

p.M1T

c.2T>C

Exome: 0.0% (AC=2, hom=0)Genome: n/a31 overlapping SVs

1 paper

chr4:182915018 C>G

NM_001921.3

p.G50A

c.149G>C

dCMP_cyt_deam_1

exact variant not in gnomAD31 overlapping SVs

5 papers

chr4:182914995 T>C

NM_001921.3

p.N58D

c.172A>G

dCMP_cyt_deam_1

Exome: 0.1% (AC=2038, hom=2)Genome: 0.1% (AC=94, hom=0)31 overlapping SVs

1 paper

chr4:182914991 C>T

NM_001921.3

p.G59E

c.176G>A

dCMP_cyt_deam_1

Exome: 0.0% (AC=9, hom=0)Genome: 0.0% (AC=1, hom=0)31 overlapping SVs

1 paper

chr4:182914956 C>T

NM_001921.3

p.A71T

c.211G>A

dCMP_cyt_deam_1

Exome: 0.0% (AC=1, hom=0)Genome: n/a31 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."