Varaico: Literature-Extracted Genetic Variants

Gene:MMAA
Variant:p.G192D

MMAA

197 papers

RefSeq Summary

The protein encoded by this gene is involved in the translocation of cobalamin into the mitochondrion, where it is used in the final steps of adenosylcobalamin synthesis. Adenosylcobalamin is a coenzy...

Pfam Domains

MeaBaa 101–384UCSCMethylmalonyl Co-A mutase-associated GTPase MeaB

Gene Aliases

HGNC Name

metabolism of cobalamin associated A

HGNC Alias Symbol

cblA

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_172250.3
p.G192D
c.575G>A
Surrounding Variants
1 paper
NM_172250.3
p.L190insFs
c.568_569insT
2 papers
NM_172250.3
p.S189fs
c.565_566fs
16 papers
NM_172250.3
p.R196*
c.586C>T
1 paper
NM_172250.3
p.R196Q
c.587G>A
3 papers
NM_172250.3
p.G188Splc
c.563-1G>A
1 paper
NM_172250.3
p.M197fs
c.589_590fs
2 papers
NM_172250.3
p.M197V
c.589A>G
17 papers
NM_172250.3
p.T198_E199delFs
c.593_596del4
5 papers
NM_172250.3
p.T198fs
c.592_593fs
6 papers
NM_172250.3
p.T198fs
c.592_593fs
5 papers
NM_172250.3
p.T198insFs
c.594dupT
2 papers
NM_172250.3
p.E199_L200delFs
c.595_599del5
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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."