Varaico: Literature-Extracted Genetic Variants

Gene:BHMT2
Variant:p.G248S

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
3 papers
NM_017614.5
p.G248S
c.742G>A
Surrounding Variants
1 paper
NM_017614.5
p.A244T
c.730G>A
1 paper
NM_017614.5
p.P259R
c.776C>G
1 paper
NM_017614.5
p.A233V
c.698C>T
1 paper
NM_017614.5
p.V206M
c.616G>A
1 paper
NM_017614.5
p.L262P
c.785T>C
1 paper
NM_017614.5
p.R269T
c.806G>C
1 paper
NM_017614.5
p.C290G
c.868T>G
2 papers
NM_017614.5
p.A199T
c.595G>A
1 paper
NM_017614.5
p.G190R
c.568G>A
1 paper
NM_017614.5
p.G190R
c.568G>C
1 paper
NM_017614.5
p.P307Q
c.920C>A
1 paper
NM_017614.5
p.A315D
c.944C>A
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