Varaico: Literature-Extracted Genetic Variants

Gene:MMAB
Variant:p.R191W

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
23 papers
NM_052845.4
p.R191W
c.571C>T
Surrounding Variants
2 papers
NM_052845.4
p.C189_R191insFs
c.567_571dup5
5 papers
NM_052845.4
p.R191Q
c.572G>A
2 papers
NM_052845.4
p.R190ins0
c.568_570dupCGC
17 papers
NM_052845.4
p.R190H
c.569G>A
7 papers
NM_052845.4
p.R190C
c.568C>T
1 paper
NM_052845.4
p.R190insFs
c.568_569insT
1 paper
NM_052845.4
p.A192V
c.575C>T
2 papers
NM_052845.4
p.C189Y
c.566G>A
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.C189fs
c.565_566fs
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