Varaico: Literature-Extracted Genetic Variants

Gene:MCMDC2
Variant:p.L511P

MCMDC2

48 papers

Pfam Domains

MCMDC2_Naa 6–105UCSCMCMDC2, N-terminal domain
MCMaa 294–440UCSCMCM P-loop domain
MCM_lidaa 538–622UCSCMCM AAA-lid domain

Gene Aliases

HGNC Name

minichromosome maintenance domain containing 2

HGNC Previous Symbol

C8orf45

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_173518.5
p.L511P
c.1532T>C
Surrounding Variants
1 paper
NM_173518.5
p.S504L
c.1511C>T
1 paper
NM_173518.5
p.A521A
c.1563C>T
1 paper
NM_173518.5
p.I522V
c.1564A>G
1 paper
NM_173518.5
p.P524S
c.1570C>T
2 papers
NM_173518.5
p.A530V
c.1589C>T
1 paper
NM_173518.5
p.N490K
c.1470C>A
1 paper
NM_173518.5
p.N490K
c.1470C>G
1 paper
NM_173518.5
p.R533*
c.1597A>T
1 paper
NM_173518.5
p.W459*
c.1377G>A
1 paper
NM_173518.5
p.W459*
c.1376G>A
2 papers
NM_173518.5
p.C456*
c.1368C>A
2 papers
NM_173518.5
p.Q455*
c.1363C>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."