Varaico: Literature-Extracted Genetic Variants

Gene:MMAB
Variant:p.F83L

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.F83L
c.249T>A
Surrounding Variants
1 paper
NM_052845.4
p.F83L
c.249T>G
1 paper
NM_052845.4
p.F83S
c.248T>C
1 paper
NM_052845.4
p.F83L
c.247T>C
1 paper
NM_052845.4
p.V82fs
c.244_245fs
1 paper
NM_052845.4
p.R76_D79delFs
c.227_236del10
1 paper
NM_052845.4
p.T89S
c.265A>T
1 paper
NM_052845.4
p.K78R
c.233A>G
1 paper
NM_052845.4
p.D90_E91insFs
c.270_271insA
1 paper
NM_052845.4
p.E91K
c.271G>A
1 paper
NM_052845.4
p.E91G
c.272A>G
1 paper
NM_052845.4
p.R76G
c.226A>G
2 papers
NM_052845.4
p.R76fs
c.226_227fs
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