Varaico: Literature-Extracted Genetic Variants

Gene:TYMS
Variant:p.L131V

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
2 papers
NM_001071.4
p.L131V
c.391T>G
Surrounding Variants
1 paper
NM_001071.4
p.L131L
c.391T>C
1 paper
NM_001071.4
p.D130A
c.389A>C
1 paper
NM_001071.4
p.D130G
c.389A>G
1 paper
NM_001071.4
p.L131L
c.393G>A
1 paper
NM_001071.4
p.G132R
c.394G>C
1 paper
NM_001071.4
p.G132D
c.395G>A
1 paper
NM_001071.4
p.G132A
c.395G>C
1 paper
NM_001071.4
p.E128D
c.384A>C
1 paper
NM_001071.4
p.P133P
c.399A>C
5 papers
NM_001071.4
p.E128G
c.383A>G
2 papers
NM_001071.4
p.E127D
c.381A>C
6 papers
NM_001071.4
p.E127E
c.381A>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."