Varaico: Literature-Extracted Genetic Variants

Gene:MMAB
Variant:p.K116_I117Splc

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.K116_I117Splc
c.349-1G>A
Surrounding Variants
4 papers
NM_052845.4
p.K116_I117Splc
c.349-1G>C
1 paper
NM_052845.4
p.K116_I117Splc
c.349-2A>T
1 paper
NM_052845.4
p.Q118E
c.352C>G
1 paper
NM_052845.4
p.Q118del1
c.352_353delCTG
2 papers
NM_052845.4
p.I117_Q118del0
c.349_354del6
1 paper
NM_052845.4
p.C119Y
c.356G>A
1 paper
NM_052845.4
p.L121insFs
c.361_362insT
1 paper
NM_052845.4
p.Q122*
c.364C>T
1 paper
NM_052845.4
p.D123fs
c.367_368fs
1 paper
NM_052845.4
p.D123delFs
c.367delC
1 paper
NM_052845.4
p.V124I
c.370G>A
1 paper
NM_052845.4
p.G125S
c.373G>A
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