Varaico: Literature-Extracted Genetic Variants

Gene:MCMDC2
Variant:p.R369H

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
2 papers
NM_173518.5
p.R369H
c.1106G>A
Surrounding Variants
1 paper
NM_173518.5
p.R372H
c.1115G>A
1 paper
NM_173518.5
p.H373Y
c.1117C>T
1 paper
NM_173518.5
p.V375_T377del3
c.1123_1130del9
1 paper
NM_173518.5
p.S363R
c.1089C>A
1 paper
NM_173518.5
p.S363R
c.1089C>G
1 paper
NM_173518.5
p.S363R
c.1087A>C
1 paper
NM_173518.5
p.K420*
c.1258A>T
1 paper
NM_173518.5
p.K441T
c.1322A>C
2 papers
NM_173518.5
p.V454F
c.1360G>T
2 papers
NM_173518.5
p.Q455*
c.1363C>T
2 papers
NM_173518.5
p.C456*
c.1368C>A
1 paper
NM_173518.5
p.W459*
c.1376G>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."