Varaico: Literature-Extracted Genetic Variants

Gene:TYMS

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
1–12 of 428 variants
10 papers
NM_001071.4
p.Y33H
c.97T>C
9 papers
NM_001071.4
p.M1I
c.3G>C
9 papers
NM_001071.4
p.R163K
c.488G>A
8 papers
NM_001071.4
p.G52S
c.154G>A
6 papers
NM_001071.4
p.E100Q
c.298G>C
6 papers
NM_001071.4
p.E127E
c.381A>G
6 papers
NM_001071.4
p.P303L
c.908C>T
5 papers
NM_001071.4
p.K47E
c.139A>G
5 papers
NM_001071.4
p.D49G
c.146A>G
5 papers
NM_001071.4
p.R50C
c.148C>T
5 papers
NM_001071.4
p.T51A
c.151A>G
5 papers
NM_001071.4
p.E128G
c.383A>G
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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."