Varaico: Literature-Extracted Genetic Variants

Gene:MCM6
Variant:p.I482V

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.I482V
c.1444A>G
Surrounding Variants
1 paper
NM_005915.6
p.I473N
c.1418T>A
1 paper
NM_005915.6
p.A472S
c.1414G>T
1 paper
NM_005915.6
p.Q470R
c.1409A>G
1 paper
NM_005915.6
p.R468W
c.1402C>T
1 paper
NM_005915.6
p.D463G
c.1388A>G
1 paper
NM_005915.6
p.V456M
c.1366G>A
2 papers
NM_005915.6
p.A495T
c.1483G>A
1 paper
NM_005915.6
p.S507G
c.1519A>G
1 paper
NM_005915.6
p.P525S
c.1573C>T
1 paper
NM_005915.6
p.I526I
c.1578C>T
1 paper
NM_005915.6
p.L449F
c.1347G>T
1 paper
NM_005915.6
p.L449F
c.1347G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."