Varaico: Literature-Extracted Genetic Variants

Gene:THTPA
Variant:p.E58delFs

THTPA

9 papers

RefSeq Summary

This gene encodes an enzyme which catalyzes the biosynthesis of thiamine disphophate (vitamin B1) by hydrolysis of thiamine triphosphate. Alternative splicing results in multiple transcript variants. ...

Pfam Domains

CYTHaa 5–130UCSCCYTH domain

Gene Aliases

HGNC Name

thiamine triphosphatase

HGNC Alias Symbol

THTPASE

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024328.6
p.E58delFs
c.173_174delAG
Surrounding Variants
1 paper
NM_024328.6
p.E63G
c.188A>G
1 paper
NM_024328.6
p.T38I
c.113C>T
1 paper
NM_024328.6
p.D37A
c.110A>C
1 paper
NM_024328.6
p.V33I
c.97G>A
1 paper
NM_024328.6
p.E81A
c.242A>C
1 paper
NM_024328.6
p.Q3L
c.8A>T
1 paper
NM_024328.6
p.M1R
c.2T>G
1 paper
NM_024328.6
p.M1L
c.1A>C
1 paper
NM_024328.6
p.M1L
c.1A>T
1 paper
NM_024328.6
p.D145A
c.434A>C
1 paper
NM_024328.6
p.D147A
c.440A>C
1 paper
NM_024328.6
p.T148S
c.442A>T
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