Varaico: Literature-Extracted Genetic Variants

Gene:MCMBP
Variant:p.R205G

MCMBP

32 papers

RefSeq Summary

This gene encodes a protein which is a component of the hexameric minichromosome maintenance (MCM) complex which regulates initiation and elongation of DNA. Multiple transcript variants encoding diffe...

Pfam Domains

MCM_bindaa 36–631UCSCMini-chromosome maintenance replisome factor

Gene Aliases

HGNC Name

minichromosome maintenance complex binding protein

HGNC Previous Symbol

C10orf119

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001256378.2
p.R205G
c.613C>G
Surrounding Variants
1 paper
NM_001256378.2
p.H185R
c.554A>G
1 paper
NM_001256378.2
p.M174V
c.520A>G
2 papers
NM_001256378.2
p.R163H
c.488G>A
1 paper
NM_001256378.2
p.P161S
c.481C>T
1 paper
NM_001256378.2
p.D283fs
c.847_848fs
1 paper
NM_001256378.2
p.D283delFs
c.847delC
1 paper
NM_001256378.2
p.P284S
c.850C>T
1 paper
NM_001256378.2
p.P305S
c.913C>T
1 paper
NM_001256378.2
p.E143Q
c.427G>C
1 paper
NM_001256378.2
p.T139M
c.416C>T
1 paper
NM_001256378.2
p.P133L
c.398C>T
1 paper
NM_001256378.2
p.L114P
c.341T>C
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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."