Varaico: Literature-Extracted Genetic Variants

Gene:MMAB
Variant:p.*251R

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.*251R
c.751T>C
Surrounding Variants
1 paper
NM_052845.4
p.*251R
c.751T>A
1 paper
NM_052845.4
p.L250F
c.748C>T
3 papers
NM_052845.4
p.P243_S244insFs
c.729_730insTT
1 paper
NM_052845.4
p.M239T
c.716T>C
15 papers
NM_052845.4
p.M239K
c.716T>A
1 paper
NM_052845.4
p.A227_K236del10
c.679_707del30
1 paper
NM_052845.4
p.E235K
c.703G>A
8 papers
NM_052845.4
p.Q234*
c.700C>T
1 paper
NM_052845.4
p.G232V
c.695G>T
3 papers
NM_052845.4
p.A228delFs
c.682delC
3 papers
NM_052845.4
p.A228fs
c.682_683fs
2 papers
NM_052845.4
p.Y226insFs
c.678dupT
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