Varaico: Literature-Extracted Genetic Variants

Gene:MCCD1
Variant:p.L78P

MCCD1

15 papers

Pfam Domains

MCCD1aa 26–117UCSCMitochondrial coiled-coil domain protein 1

Gene Aliases

HGNC Name

mitochondrial coiled-coil domain 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001011700.3
p.L78P
c.233T>C
Surrounding Variants
1 paper
NM_001011700.3
p.M108K
c.323T>A
1 paper
NM_001011700.3
p.M108T
c.323T>C
1 paper
NM_001011700.3
p.G118G
c.354C>T
1 paper
NM_001011700.3
p.T53M
c.158C>T
2 papers
NM_001011700.3
p.S45N
c.134G>A
1 paper
NM_001011700.3
p.T44A
c.130A>G
2 papers
NM_001011700.3
p.E42K
c.124G>A
1 paper
NM_001011700.3
p.V2I
c.4G>A
1 paper
NM_001011700.3
p.M1K
c.2T>A
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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."