Varaico: Literature-Extracted Genetic Variants

Gene:MCM6
Variant:p.R602H

MCM6

149 papers

RefSeq Summary

The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein...

Pfam Domains

MCM_Naa 27–116UCSCMCM N-terminal domain
MCM_OBaa 122–252UCSCMCM OB domain
MCMaa 333–556UCSCMCM P-loop domain
MCM_lidaa 570–656UCSCMCM AAA-lid domain
WHD_MCM6aa 711–819UCSCMCM6 C-terminal winged-helix domain

Gene Aliases

HGNC Name

minichromosome maintenance complex component 6

HGNC Alias Symbol

Mis5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005915.6
p.R602H
c.1805G>A
Surrounding Variants
1 paper
NM_005915.6
p.D605G
c.1814A>G
1 paper
NM_005915.6
p.V609L
c.1825G>T
1 paper
NM_005915.6
p.Q620Q
c.1860G>A
1 paper
NM_005915.6
p.M631V
c.1891A>G
1 paper
NM_005915.6
p.R633W
c.1897C>T
1 paper
NM_005915.6
p.R633P
c.1898G>C
1 paper
NM_005915.6
p.R633Q
c.1898G>A
1 paper
NM_005915.6
p.E639_V640Splc
c.1917+225C>T
7 papers
NM_005915.6
p.E639_V640Splc
c.1917+326C>T
1 paper
NM_005915.6
p.R565C
c.1693C>T
1 paper
NM_005915.6
p.I563I
c.1689T>C
1 paper
NM_005915.6
p.H556Y
c.1666C>T
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