Varaico: Literature-Extracted Genetic Variants

Gene:TYMS
Variant:p.R283Q

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.R283Q
c.848G>A
Surrounding Variants
2 papers
NM_001071.4
p.K284I
c.851A>T
2 papers
NM_001071.4
p.K284N
c.852A>C
2 papers
NM_001071.4
p.K284N
c.852A>T
2 papers
NM_001071.4
p.V285D
c.854T>A
1 paper
NM_001071.4
p.I288T
c.863T>C
1 paper
NM_001071.4
p.D289H
c.865G>C
1 paper
NM_001071.4
p.P277_K278insFs
c.831_832insA
1 paper
NM_001071.4
p.P277S
c.829C>T
1 paper
NM_001071.4
p.F276F
c.828C>T
1 paper
NM_001071.4
p.D290E
c.870C>A
1 paper
NM_001071.4
p.D290D
c.870C>T
1 paper
NM_001071.4
p.P275P
c.825T>C
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