Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MMAB

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 203 variants

27 papers

chr12:109561068 G>A

NM_052845.4

p.R186W

c.556C>T

Cob_adeno_trans

Exome: 0.0% (AC=383, hom=0)Genome: 0.0% (AC=22, hom=0)21 overlapping SVs

23 papers

chr12:109561053 G>A

NM_052845.4

p.R191W

c.571C>T

Cob_adeno_trans

Exome: 0.0% (AC=14, hom=0)Genome: 0.0% (AC=5, hom=0)21 overlapping SVs

17 papers

chr12:109561055 C>T

NM_052845.4

p.R190H

c.569G>A

Cob_adeno_trans

Exome: 0.0% (AC=27, hom=0)Genome: 0.0% (AC=1, hom=0)21 overlapping SVs

15 papers

chr12:109568864 C>A

NM_052845.4

p.G66Splc

c.197-1G>T

Exome: 0.0% (AC=33, hom=0)Genome: 0.0% (AC=2, hom=0)21 overlapping SVs

15 papers

chr12:109557065 A>T

NM_052845.4

p.M239K

c.716T>A

Exome: 51.7% (AC=754888, hom=198647)Genome: 56.7% (AC=86264, hom=25474)20 overlapping SVs

14 papers

chr12:109561047 C>T

NM_052845.4

p.E193K

c.577G>A

Cob_adeno_trans

Exome: 0.0% (AC=18, hom=0)Genome: 0.0% (AC=2, hom=0)21 overlapping SVs

13 papers

chr12:109568773 A>G

NM_052845.4

p.I96T

c.287T>C

Cob_adeno_trans

exact variant not in gnomAD21 overlapping SVs

11 papers

chr12:109565177 C>T

NM_052845.4

p.G97Splc

c.291-1G>A

Exome: 0.0% (AC=121, hom=0)Genome: 0.0% (AC=5, hom=0)21 overlapping SVs

9 papers

chr12:109561067 C>T

NM_052845.4

p.R186Q

c.557G>A

Cob_adeno_trans

Exome: 0.0% (AC=9, hom=0)Genome: 0.0% (AC=3, hom=0)21 overlapping SVs

8 papers

chr12:109557081 G>A

NM_052845.4

p.Q234*

c.700C>T

Exome: 0.0% (AC=261, hom=0)Genome: 0.0% (AC=5, hom=0)20 overlapping SVs

7 papers

chr12:109561798 C>T

NM_052845.4

p.A135T

c.403G>A

Cob_adeno_trans

Exome: 0.0% (AC=365, hom=0)Genome: 0.2% (AC=377, hom=3)21 overlapping SVs

7 papers

chr12:109561056 G>A

NM_052845.4

p.R190C

c.568C>T

Cob_adeno_trans

Exome: 0.0% (AC=14, hom=0)Genome: n/a21 overlapping SVs

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."