Varaico: Literature-Extracted Genetic Variants

Gene:MMAB
Variant:p.F221C

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
2 papers
NM_052845.4
p.F221C
c.662T>G
Surrounding Variants
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.Y219_L220delFs
c.656_659del4
1 paper
NM_052845.4
p.L220P
c.659T>C
1 paper
NM_052845.4
p.L223P
c.668T>C
4 papers
NM_052845.4
p.Y219C
c.656A>G
1 paper
NM_052845.4
p.Y219H
c.655T>C
1 paper
NM_052845.4
p.Y219fs
c.655_656fs
1 paper
NM_052845.4
p.D218V
c.653A>T
1 paper
NM_052845.4
p.D218N
c.652G>A
1 paper
NM_052845.4
p.S217R
c.651T>G
1 paper
NM_052845.4
p.S217R
c.651T>A
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