Varaico: Literature-Extracted Genetic Variants

Gene:MMAB
Variant:p.A187ins2

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.A187ins2
c.560_561ins6
Surrounding Variants
1 paper
NM_052845.4
p.A187ins3
c.560_561ins9
2 papers
NM_052845.4
p.R186_A187Fs
c.558_559delinsCFs
1 paper
NM_052845.4
p.A187fs
c.559_560fs
1 paper
NM_052845.4
p.V188L
c.562G>C
4 papers
NM_052845.4
p.V188M
c.562G>A
1 paper
NM_052845.4
p.C185_A187Fs
c.554_559delinsTGTGFs
9 papers
NM_052845.4
p.R186Q
c.557G>A
27 papers
NM_052845.4
p.R186W
c.556C>T
1 paper
NM_052845.4
p.C189fs
c.565_566fs
2 papers
NM_052845.4
p.C189Y
c.566G>A
7 papers
NM_052845.4
p.R190C
c.568C>T
1 paper
NM_052845.4
p.R190insFs
c.568_569insT
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