Varaico: Literature-Extracted Genetic Variants

Gene:MMAB
Variant:p.A127D

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.A127D
c.380C>A
Surrounding Variants
2 papers
NM_052845.4
p.S126L
c.377C>T
1 paper
NM_052845.4
p.G125S
c.373G>A
1 paper
NM_052845.4
p.V124I
c.370G>A
1 paper
NM_052845.4
p.D123delFs
c.367delC
1 paper
NM_052845.4
p.D123fs
c.367_368fs
2 papers
NM_052845.4
p.C132R
c.394T>C
1 paper
NM_052845.4
p.Q122*
c.364C>T
1 paper
NM_052845.4
p.L121insFs
c.361_362insT
3 papers
NM_052845.4
p.S133F
c.398C>T
1 paper
NM_052845.4
p.A135S
c.403G>T
7 papers
NM_052845.4
p.A135T
c.403G>A
1 paper
NM_052845.4
p.C119Y
c.356G>A
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