Varaico: Literature-Extracted Genetic Variants

Gene:THNSL2
Variant:p.F81L

THNSL2

46 papers

RefSeq Summary

This gene encodes a threonine synthase-like protein. A similar enzyme in mouse can catalyze the degradation of O-phospho-homoserine to a-ketobutyrate, phosphate, and ammonia. This protein also has pho...

Pfam Domains

Thr_synth_Naa 2–81UCSCThreonine synthase N terminus
PALPaa 88–416UCSCPyridoxal-phosphate dependent enzyme

Gene Aliases

HGNC Name

threonine synthase like 2

HGNC Alias Symbols

FLJ10916; TSH2; SOFAT

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018271.5
p.F81L
c.241T>C
Surrounding Variants
1 paper
NM_018271.5
p.F81_R83delFs
c.242_249del8
1 paper
NM_018271.5
p.F81_R83del3
c.241_248del9
1 paper
NM_018271.5
p.F81L
c.243C>A
1 paper
NM_018271.5
p.F81L
c.243C>G
3 papers
NM_018271.5
p.D78N
c.232G>A
2 papers
NM_018271.5
p.V108I
c.322G>A
1 paper
NM_018271.5
p.T109insFs
c.326_327insA
1 paper
NM_018271.5
p.A111E
c.332C>A
1 paper
NM_018271.5
p.D114N
c.340G>A
2 papers
NM_018271.5
p.L117M
c.349C>A
1 paper
NM_018271.5
p.K133delFs
c.398_399delAG
1 paper
NM_018271.5
p.G140Splc
c.419-6A>G
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