Varaico: Literature-Extracted Genetic Variants

Gene:MMAB
Variant:p.S174L

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
5 papers
NM_052845.4
p.S174L
c.521C>T
Surrounding Variants
5 papers
NM_052845.4
p.S174fs
c.520_521fs
1 paper
NM_052845.4
p.S174fs
c.520_521fs
1 paper
NM_052845.4
p.G175*
c.523G>T
1 paper
NM_052845.4
p.G175R
c.523G>A
1 paper
NM_052845.4
p.G175E
c.524G>A
1 paper
NM_052845.4
p.G176fs
c.526_527fs
2 papers
NM_052845.4
p.S180W
c.539C>G
1 paper
NM_052845.4
p.A181A
c.543G>A
1 paper
NM_052845.4
p.H183Y
c.547C>T
5 papers
NM_052845.4
p.H183L
c.548A>T
27 papers
NM_052845.4
p.R186W
c.556C>T
9 papers
NM_052845.4
p.R186Q
c.557G>A
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