Varaico: Literature-Extracted Genetic Variants

Gene:MCMDC2
Variant:p.D32Y

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.D32Y
c.94G>T
Surrounding Variants
1 paper
NM_173518.5
p.D26H
c.76G>C
1 paper
NM_173518.5
p.D25delFs
c.75delT
1 paper
NM_173518.5
p.A38V
c.113C>T
1 paper
NM_173518.5
p.R41*
c.121C>T
1 paper
NM_173518.5
p.P48R
c.143C>G
1 paper
NM_173518.5
p.A56V
c.167C>T
1 paper
NM_173518.5
p.P66A
c.196C>G
1 paper
NM_173518.5
p.K68delFs
c.204delA
3 papers
NM_173518.5
p.A69fs
c.205_206fs
1 paper
NM_173518.5
p.F73C
c.218T>G
1 paper
NM_173518.5
p.Q74*
c.220C>T
1 paper
NM_173518.5
p.S75del1
c.223_224delTCA
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