Varaico: Literature-Extracted Genetic Variants

Gene:MMADHC
Variant:p.A232V

MMADHC

149 papers

RefSeq Summary

This gene encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans. Mutations in ...

Pfam Domains

MMADHCaa 24–294UCSCMethylmalonic aciduria and homocystinuria type D protein

Gene Aliases

HGNC Name

metabolism of cobalamin associated D

HGNC Previous Symbol

C2orf25

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015702.3
p.A232V
c.695C>T
Surrounding Variants
2 papers
NM_015702.3
p.A232del1
c.694_695delTGC
2 papers
NM_015702.3
p.L231M
c.691T>A
9 papers
NM_015702.3
p.S228*
c.683C>G
7 papers
NM_015702.3
p.S228*
c.683C>A
1 paper
NM_015702.3
p.P227fs
c.679_680fs
1 paper
NM_015702.3
p.P227delFs
c.680delG
1 paper
NM_015702.3
p.D226A
c.677A>C
4 papers
NM_015702.3
p.G219_Y220del1
c.657_659delTAA
2 papers
NM_015702.3
p.G219_Y220del1
c.656_658delAAC
2 papers
NM_015702.3
p.R216*
c.646C>T
2 papers
NM_015702.3
p.R216G
c.646C>G
1 paper
NM_015702.3
p.A214V
c.641C>T
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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."