Varaico: Literature-Extracted Genetic Variants

Gene:MMAB
Variant:p.R75W

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.R75W
c.223A>T
Surrounding Variants
3 papers
NM_052845.4
p.E74*
c.220G>T
1 paper
NM_052845.4
p.R76G
c.226A>G
2 papers
NM_052845.4
p.R76fs
c.226_227fs
1 paper
NM_052845.4
p.K78R
c.233A>G
1 paper
NM_052845.4
p.R76_D79delFs
c.227_236del10
1 paper
NM_052845.4
p.S69delFs
c.206delC
1 paper
NM_052845.4
p.S69fs
c.205_206fs
2 papers
NM_052845.4
p.S69G
c.205A>G
1 paper
NM_052845.4
p.S68F
c.203C>T
1 paper
NM_052845.4
p.V82fs
c.244_245fs
1 paper
NM_052845.4
p.F83L
c.247T>C
1 paper
NM_052845.4
p.F83S
c.248T>C
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