Varaico: Literature-Extracted Genetic Variants

Gene:MMAB
Variant:p.G97Splc

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.G97Splc
c.291-1G>T
Surrounding Variants
11 papers
NM_052845.4
p.G97Splc
c.291-1G>A
1 paper
NM_052845.4
p.G97R
c.289G>C
1 paper
NM_052845.4
p.G97R
c.289G>A
1 paper
NM_052845.4
p.E101K
c.301G>A
1 paper
NM_052845.4
p.L102*
c.305T>G
1 paper
NM_052845.4
p.L102delFs
c.305delA
1 paper
NM_052845.4
p.H108Y
c.322C>T
2 papers
NM_052845.4
p.E112*
c.334G>T
1 paper
NM_052845.4
p.Q115_K116delFs
c.344_347del4
1 paper
NM_052845.4
p.K116_I117Splc
c.349-2A>T
4 papers
NM_052845.4
p.K116_I117Splc
c.349-1G>C
1 paper
NM_052845.4
p.K116_I117Splc
c.349-1G>A
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