Varaico: Literature-Extracted Genetic Variants

Gene:TYMS
Variant:p.Q38*

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.Q38*
c.112C>T
Surrounding Variants
1 paper
NM_001071.4
p.I37I
c.111C>T
1 paper
NM_001071.4
p.Q36Q
c.108G>A
1 paper
NM_001071.4
p.Q36_I37ins6
c.106_110ins18
1 paper
NM_001071.4
p.G35G
c.105G>A
1 paper
NM_001071.4
p.I40T
c.119T>C
1 paper
NM_001071.4
p.I40I
c.120C>A
1 paper
NM_001071.4
p.G35W
c.103G>T
1 paper
NM_001071.4
p.L41_R42insFs
c.123_124ins4
1 paper
NM_001071.4
p.L34M
c.100C>A
1 paper
NM_001071.4
p.R42S
c.124C>A
1 paper
NM_001071.4
p.L34L
c.100C>T
2 papers
NM_001071.4
p.R42H
c.125G>A
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