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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MCMBP

Variant:p.A20Splc

MCMBP

10q26.11 (UCSC)OMIM GTEx

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr10:119872525 A>C

NM_001256378.2

p.A20Splc

c.58+2T>G

exact variant not in gnomAD13 overlapping SVs

Surrounding Variants

chr10:119872581 G>A

NM_001256378.2

p.P2S

c.4C>T

Exome: 0.0% (AC=1, hom=0)Genome: n/a13 overlapping SVs

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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."