Varaico: Literature-Extracted Genetic Variants

Gene:MCMDC2
Variant:p.Q131H

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.Q131H
c.393A>T
Surrounding Variants
1 paper
NM_173518.5
p.Q131H
c.393A>C
1 paper
NM_173518.5
p.P157S
c.469C>T
1 paper
NM_173518.5
p.L105S
c.314T>C
1 paper
NM_173518.5
p.R215C
c.643C>T
1 paper
NM_173518.5
p.N223_Q224del2
c.667_671del6
3 papers
NM_173518.5
p.Q229*
c.685C>T
2 papers
NM_173518.5
p.T94M
c.281C>T
1 paper
NM_173518.5
p.V76F
c.226G>T
1 paper
NM_173518.5
p.S75delFs
c.223_224delTC
1 paper
NM_173518.5
p.S75del1
c.223_224delTCA
1 paper
NM_173518.5
p.Q74*
c.220C>T
1 paper
NM_173518.5
p.F73C
c.218T>G
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