Varaico: Literature-Extracted Genetic Variants

Gene:CDA
Variant:p.E131E

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.E131E
c.393G>A
Surrounding Variants
2 papers
NM_001785.3
p.E131G
c.392A>G
1 paper
NM_001785.3
p.V129V
c.387C>T
1 paper
NM_001785.3
p.P134A
c.400C>G
1 paper
NM_001785.3
p.P134S
c.400C>T
1 paper
NM_001785.3
p.T128M
c.383C>T
1 paper
NM_001785.3
p.S136delFs
c.406delT
1 paper
NM_001785.3
p.G138W
c.412G>T
1 paper
NM_001785.3
p.G138E
c.413G>A
1 paper
NM_001785.3
p.Y124*
c.372T>G
1 paper
NM_001785.3
p.P139S
c.415C>T
1 paper
NM_001785.3
p.T123M
c.368C>T
1 paper
NM_001785.3
p.E140K
c.418G>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."