Varaico: Literature-Extracted Genetic Variants

Gene:BHMT
Variant:p.Q406H

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
7 papers
NM_001713.3
p.Q406H
c.1218G>C
Surrounding Variants
6 papers
NM_001713.3
p.Q406H
c.1218G>T
1 paper
NM_001713.3
p.S405_Q406insA
c.1213_1217ins3
1 paper
NM_001713.3
p.K400fs
c.1198_1199fs
1 paper
NM_001713.3
p.K400fs
c.1198_1199fs
2 papers
NM_001713.3
p.K400delFs
c.1200delA
1 paper
NM_001713.3
p.Q392E
c.1174C>G
1 paper
NM_001713.3
p.E387K
c.1159G>A
1 paper
NM_001713.3
p.Q385Q
c.1155G>A
2 papers
NM_001713.3
p.G372C
c.1114G>T
1 paper
NM_001713.3
p.M367T
c.1100T>C
1 paper
NM_001713.3
p.P365A
c.1093C>G
1 paper
NM_001713.3
p.P362A
c.1084C>G
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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."