Varaico: Literature-Extracted Genetic Variants

Gene:BHMT
Variant:p.P189Q

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.P189Q
c.566C>A
Surrounding Variants
2 papers
NM_001713.3
p.C186S
c.557G>C
2 papers
NM_001713.3
p.C186S
c.556T>A
1 paper
NM_001713.3
p.C186R
c.556T>C
1 paper
NM_001713.3
p.L193F
c.579G>T
2 papers
NM_001713.3
p.P197S
c.589C>T
1 paper
NM_001713.3
p.P180insFs
c.539_540insTG
12 papers
NM_001713.3
p.G199S
c.595G>A
1 paper
NM_001713.3
p.K179I
c.536A>T
1 paper
NM_001713.3
p.V203V
c.609G>A
1 paper
NM_001713.3
p.R204S
c.610C>A
1 paper
NM_001713.3
p.V168M
c.502G>A
3 papers
NM_001713.3
p.Y160F
c.479A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."