Varaico: Literature-Extracted Genetic Variants

Gene:TYMS
Variant:p.E299K

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
1 paper
NM_001071.4
p.E299K
c.895G>A
Surrounding Variants
1 paper
NM_001071.4
p.E299_N302del4
c.895_905del12
1 paper
NM_001071.4
p.G300R
c.898G>A
1 paper
NM_001071.4
p.Q297Q
c.891G>A
1 paper
NM_001071.4
p.Y301H
c.901T>C
2 papers
NM_001071.4
p.N302S
c.905A>G
6 papers
NM_001071.4
p.P303L
c.908C>T
2 papers
NM_001071.4
p.A293A
c.879T>G
1 paper
NM_001071.4
p.A293V
c.878C>T
1 paper
NM_001071.4
p.A293T
c.877G>A
1 paper
NM_001071.4
p.T306A
c.916A>G
1 paper
NM_001071.4
p.F291L
c.873C>A
1 paper
NM_001071.4
p.F291L
c.873C>G
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