Varaico: Literature-Extracted Genetic Variants

Gene:CDA
Variant:p.L42L

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
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001785.3
p.L42L
c.126G>T
Surrounding Variants
1 paper
NM_001785.3
p.L42L
c.126G>A
1 paper
NM_001785.3
p.L43F
c.127C>T
1 paper
NM_001785.3
p.L42M
c.124C>A
1 paper
NM_001785.3
p.L43L
c.129C>A
1 paper
NM_001785.3
p.L43L
c.129C>T
1 paper
NM_001785.3
p.A41T
c.121G>A
1 paper
NM_001785.3
p.T44T
c.132C>A
1 paper
NM_001785.3
p.A40V
c.119C>T
1 paper
NM_001785.3
p.A40T
c.118G>A
1 paper
NM_001785.3
p.G39G
c.117G>C
1 paper
NM_001785.3
p.G39V
c.116G>T
2 papers
NM_001785.3
p.G39R
c.115G>A
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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."