Varaico: Literature-Extracted Genetic Variants

Gene:BHMT
Variant:p.K40R

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.K40R
c.119A>G
Surrounding Variants
1 paper
NM_001713.3
p.K40T
c.119A>C
1 paper
NM_001713.3
p.E34K
c.100G>A
1 paper
NM_001713.3
p.L33R
c.98T>G
1 paper
NM_001713.3
p.G27E
c.80G>A
2 papers
NM_001713.3
p.D26A
c.77A>C
2 papers
NM_001713.3
p.I22M
c.66T>G
1 paper
NM_001713.3
p.E21A
c.62A>C
1 paper
NM_001713.3
p.E21K
c.61G>A
1 paper
NM_001713.3
p.G12R
c.34G>C
1 paper
NM_001713.3
p.K11_G12Splc
c.34-266C>T
2 papers
NM_001713.3
p.A66G
c.197C>G
2 papers
NM_001713.3
p.Y77F
c.230A>T
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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."