Varaico: Literature-Extracted Genetic Variants

Gene:BHMT
Variant:p.Q124H

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.Q124H
c.372G>C
Surrounding Variants
1 paper
NM_001713.3
p.V122M
c.364G>A
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.T135_E136delFs
c.405_406delTG
1 paper
NM_001713.3
p.T135_E136insFs
c.405_406insA
1 paper
NM_001713.3
p.E136K
c.406G>A
1 paper
NM_001713.3
p.D112A
c.335A>C
1 paper
NM_001713.3
p.A111D
c.332C>A
1 paper
NM_001713.3
p.R108R
c.322C>A
2 papers
NM_001713.3
p.D105N
c.313G>A
2 papers
NM_001713.3
p.Q144H
c.432G>T
1 paper
NM_001713.3
p.M149delFs
c.446delT
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."