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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CDA

CDA

468 papers

RefSeq Summary

This gene encodes an enzyme involved in pyrimidine salvaging. The encoded protein forms a homotetramer that catalyzes the irreversible hydrolytic deamination of cytidine and deoxycytidine to uridine a...

Pfam Domains

dCMP_cyt_deam_1aa 12–118UCSCCytidine and deoxycytidylate deaminase zinc-binding region

Gene Aliases

HGNC Name

cytidine deaminase

HGNC Alias Symbol

CDD

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 195 variants

143 papers

chr1:20589208 A>C

NM_001785.3

p.K27Q

c.79A>C

dCMP_cyt_deam_1

Exome: 31.9% (AC=466507, hom=77845)Genome: 25.1% (AC=38186, hom=5858)68 overlapping SVs

78 papers

chr1:20604981 G>A

NM_001785.3

p.A70T

c.208G>A

dCMP_cyt_deam_1

Exome: 0.0% (AC=725, hom=11)Genome: 0.0% (AC=54, hom=2)69 overlapping SVs

35 papers

chr1:20618562 C>T

NM_001785.3

p.T145T

c.435C>T

Exome: 31.7% (AC=452357, hom=72852)Genome: 33.3% (AC=50559, hom=8558)67 overlapping SVs

5 papers

chr1:20604975 C>T

NM_001785.3

p.R68W

c.202C>T

dCMP_cyt_deam_1

Exome: 0.0% (AC=63, hom=0)Genome: 0.0% (AC=4, hom=0)69 overlapping SVs

5 papers

chr1:20604976 G>A

NM_001785.3

p.R68Q

c.203G>A

dCMP_cyt_deam_1

Exome: 0.0% (AC=11, hom=0)Genome: 0.0% (AC=1, hom=0)69 overlapping SVs

4 papers

chr1:20589130 A>G

NM_001785.3

p.M1V

c.1A>G

Exome: 0.0% (AC=5, hom=0)Genome: 0.0% (AC=2, hom=0)68 overlapping SVs

3 papers

chr1:20589205 A>C

NM_001785.3

p.K26Q

c.76A>C

dCMP_cyt_deam_1

exact variant not in gnomAD68 overlapping SVs

3 papers

chr1:20589208 A>G

NM_001785.3

p.K27E

c.79A>G

dCMP_cyt_deam_1

exact variant not in gnomAD68 overlapping SVs

3 papers

chr1:20589320 G>A

NM_001785.3

p.G52Splc

c.154+37G>A

Exome: 3.0% (AC=43127, hom=2754)Genome: 8.0% (AC=12188, hom=1092)68 overlapping SVs

3 papers

chr1:20604955 C>T

NM_001785.3

p.P61L

c.182C>T

dCMP_cyt_deam_1

Exome: 0.0% (AC=215, hom=3)Genome: 0.0% (AC=14, hom=0)69 overlapping SVs

3 papers

chr1:20605281 A>G

NM_001785.3

p.S89Splc

c.266+242A>G

Exome: n/aGenome: 35.1% (AC=53286, hom=9819)69 overlapping SVs

2 papers

chr1:20589164 C>T

NM_001785.3

p.P12L

c.35C>T

dCMP_cyt_deam_1

exact variant not in gnomAD68 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."