Varaico: Literature-Extracted Genetic Variants

Gene:BHMT2
Variant:p.N82Y

BHMT2

44 papers

RefSeq Summary

Homocysteine is a sulfur-containing amino acid that plays a crucial role in methylation reactions. Transfer of the methyl group from betaine to homocysteine creates methionine, which donates the methy...

Pfam Domains

S-methyl_transaa 23–305UCSCHomocysteine S-methyltransferase

Gene Aliases

HGNC Name

betaine--homocysteine S-methyltransferase 2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017614.5
p.N82Y
c.244A>T
Surrounding Variants
1 paper
NM_017614.5
p.S68A
c.202T>G
1 paper
NM_017614.5
p.A66V
c.197C>T
1 paper
NM_017614.5
p.V56Splc
c.166+655A>G
1 paper
NM_017614.5
p.A98V
c.293C>T
1 paper
NM_017614.5
p.A126T
c.376G>A
1 paper
NM_017614.5
p.R133Q
c.398G>A
1 paper
NM_017614.5
p.W141L
c.422G>T
1 paper
NM_017614.5
p.D54D
c.162C>T
1 paper
NM_017614.5
p.G20E
c.59G>A
2 papers
NM_017614.5
p.R16C
c.46C>T
1 paper
NM_017614.5
p.A158T
c.472G>A
1 paper
NM_017614.5
p.S168A
c.502T>G
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