Varaico: Literature-Extracted Genetic Variants

Gene:MCMBP
Variant:p.L553P

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.L553P
c.1658T>C
Surrounding Variants
1 paper
NM_001256378.2
p.G509W
c.1525G>T
1 paper
NM_001256378.2
p.Q484Q
c.1452G>A
1 paper
NM_001256378.2
p.P432L
c.1295C>T
1 paper
NM_001256378.2
p.E423G
c.1268A>G
1 paper
NM_001256378.2
p.A414fs
c.1240_1241fs
1 paper
NM_001256378.2
p.A414delFs
c.1241delG
1 paper
NM_001256378.2
p.P305S
c.913C>T
1 paper
NM_001256378.2
p.P284S
c.850C>T
1 paper
NM_001256378.2
p.D283delFs
c.847delC
1 paper
NM_001256378.2
p.D283fs
c.847_848fs
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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."