Varaico: Literature-Extracted Genetic Variants

Gene:BHMT
Variant:p.T135_E136delFs

BHMT

160 papers

RefSeq Summary

This gene encodes a cytosolic enzyme that catalyzes the conversion of betaine and homocysteine to dimethylglycine and methionine, respectively. Defects in this gene could lead to hyperhomocyst(e)inemi...

Pfam Domains

S-methyl_transaa 23–314UCSCHomocysteine S-methyltransferase

Gene Aliases

HGNC Name

betaine--homocysteine S-methyltransferase

HGNC Alias Symbol

BHMT1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001713.3
p.T135_E136delFs
c.405_406delTG
Surrounding Variants
1 paper
NM_001713.3
p.T135_E136insFs
c.405_406insA
1 paper
NM_001713.3
p.E136K
c.406G>A
2 papers
NM_001713.3
p.Q144H
c.432G>T
1 paper
NM_001713.3
p.Q124H
c.372G>C
1 paper
NM_001713.3
p.V122M
c.364G>A
1 paper
NM_001713.3
p.M149delFs
c.446delT
1 paper
NM_001713.3
p.K150delins
c.448_449delinsCC
1 paper
NM_001713.3
p.K151R
c.452A>G
1 paper
NM_001713.3
p.A119G
c.356C>G
1 paper
NM_001713.3
p.A119V
c.356C>T
1 paper
NM_001713.3
p.V153M
c.457G>A
1 paper
NM_001713.3
p.L156S
c.467T>C
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