Varaico: Literature-Extracted Genetic Variants

Gene:TYMS
Variant:p.R50C

TYMS

448 papers

RefSeq Summary

Thymidylate synthase catalyzes the methylation of deoxyuridylate to deoxythymidylate using, 10-methylenetetrahydrofolate (methylene-THF) as a cofactor. This function maintains the dTMP (thymidine-5-pr...

Pfam Domains

Thymidylat_syntaa 31–313UCSCThymidylate synthase

Gene Aliases

HGNC Name

thymidylate synthetase

HGNC Previous Symbol

TS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_001071.4
p.R50C
c.148C>T
Surrounding Variants
1 paper
NM_001071.4
p.D49E
c.147C>G
5 papers
NM_001071.4
p.D49G
c.146A>G
1 paper
NM_001071.4
p.D49V
c.146A>T
1 paper
NM_001071.4
p.R50R
c.150C>T
5 papers
NM_001071.4
p.T51A
c.151A>G
4 papers
NM_001071.4
p.T51S
c.151A>T
2 papers
NM_001071.4
p.D49N
c.145G>A
2 papers
NM_001071.4
p.D48E
c.144C>A
2 papers
NM_001071.4
p.D48E
c.144C>G
1 paper
NM_001071.4
p.D48A
c.143A>C
2 papers
NM_001071.4
p.D48V
c.143A>T
8 papers
NM_001071.4
p.G52S
c.154G>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."