Varaico: Literature-Extracted Genetic Variants

Gene:MMAB
Variant:p.Y226_A227insFs

MMAB

168 papers

RefSeq Summary

This gene encodes a protein that catalyzes the final step in the conversion of vitamin B(12) into adenosylcobalamin (AdoCbl), a vitamin B12-containing coenzyme for methylmalonyl-CoA mutase. Mutations ...

Pfam Domains

Cob_adeno_transaa 58–227UCSCCobalamin adenosyltransferase

Gene Aliases

HGNC Name

metabolism of cobalamin associated B

HGNC Alias Symbol

CFAP23

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_052845.4
p.Y226_A227insFs
c.678_679ins8
Surrounding Variants
2 papers
NM_052845.4
p.Y226insFs
c.678dupT
1 paper
NM_052845.4
p.R225delFs
c.674delC
1 paper
NM_052845.4
p.R225K
c.674G>A
3 papers
NM_052845.4
p.A228fs
c.682_683fs
3 papers
NM_052845.4
p.A228delFs
c.682delC
1 paper
NM_052845.4
p.L223P
c.668T>C
2 papers
NM_052845.4
p.F221C
c.662T>G
2 papers
NM_052845.4
p.F221Y
c.662T>A
2 papers
NM_052845.4
p.L220del1
c.658_660delGAG
1 paper
NM_052845.4
p.G232V
c.695G>T
1 paper
NM_052845.4
p.Y219_L220delFs
c.656_659del4
1 paper
NM_052845.4
p.L220P
c.659T>C
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