Varaico: Literature-Extracted Genetic Variants

Gene:BHMT
Variant:p.F219C

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
2 papers
NM_001713.3
p.F219C
c.656T>G
Surrounding Variants
1 paper
NM_001713.3
p.F219L
c.657T>A
1 paper
NM_001713.3
p.F219L
c.655T>C
1 paper
NM_001713.3
p.F219L
c.657T>G
1 paper
NM_001713.3
p.D220del1
c.658_660delGAC
1 paper
NM_001713.3
p.T227fs
c.679_680fs
1 paper
NM_001713.3
p.G234S
c.700G>A
1 paper
NM_001713.3
p.L235delFs
c.705delG
1 paper
NM_001713.3
p.A237A
c.711T>G
65 papers
NM_001713.3
p.R239Q
c.716G>A
1 paper
NM_001713.3
p.P248P
c.744C>G
1 paper
NM_001713.3
p.T253P
c.757A>C
1 paper
NM_001713.3
p.C256Y
c.767G>A
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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."