Varaico: Literature-Extracted Genetic Variants

Gene:TK2
Variant:p.T108M

TK2

280 papers

RefSeq Summary

This gene encodes a deoxyribonucleoside kinase that specifically phosphorylates thymidine, deoxycytidine, and deoxyuridine. The encoded enzyme localizes to the mitochondria and is required for mitocho...

Pfam Domains

dNKaa 53–265UCSCDeoxynucleoside kinase

Gene Aliases

HGNC Name

thymidine kinase 2

HGNC Alias Symbol

SCA31

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
35 papers
NM_004614.5
p.T108M
c.323C>T
NM_001271934.2
p.T59M
c.176C>T
Surrounding Variants
1 paper
NM_004614.5
p.T111A
c.331A>G
1 paper
NM_004614.5
p.L107_T111delins
c.321_331delinsAT
1 paper
NM_004614.5
p.T111I
c.332C>T
2 papers
NM_004614.5
p.Y112N
c.334T>A
3 papers
NM_004614.5
p.R104H
c.311G>A
1 paper
NM_004614.5
p.S103S
c.309T>A
1 paper
NM_004614.5
p.V113fs
c.337_338fs
1 paper
NM_004614.5
p.Q114L
c.341A>T
1 paper
NM_004614.5
p.D101_A102insFs
c.303_304insC
2 papers
NM_004614.5
p.L115F
c.343C>T
1 paper
NM_004614.5
p.T116I
c.347C>T
1 paper
NM_004614.5
p.H100L
c.299A>T
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