Varaico: Literature-Extracted Genetic Variants

Gene:MMAB
Variant:p.V188_E193ins2

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
4 papers
NM_052845.4
p.V188_E193ins2
c.563_577dup15
Surrounding Variants
1 paper
NM_052845.4
p.C189_E193delFs
c.565_577del13
1 paper
NM_052845.4
p.E193*
c.577G>T
2 papers
NM_052845.4
p.E193Q
c.577G>C
14 papers
NM_052845.4
p.E193K
c.577G>A
1 paper
NM_052845.4
p.R194fs
c.580_581fs
1 paper
NM_052845.4
p.A192V
c.575C>T
1 paper
NM_052845.4
p.R194S
c.582A>T
1 paper
NM_052845.4
p.R194S
c.582A>C
2 papers
NM_052845.4
p.R190ins0
c.568_570dupCGC
1 paper
NM_052845.4
p.R195fs
c.583_584fs
1 paper
NM_052845.4
p.R195C
c.583C>T
1 paper
NM_052845.4
p.R194insFs
c.581_582dupGA
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