Varaico: Literature-Extracted Genetic Variants

Gene:MCPH1

MCPH1

277 papers

RefSeq Summary

This gene encodes a DNA damage response protein. The encoded protein may play a role in G2/M checkpoint arrest via maintenance of inhibitory phosphorylation of cyclin-dependent kinase 1. Mutations in ...

Pfam Domains

PTCB-BRCTaa 13–75UCSCtwin BRCT domain
PTCB-BRCTaa 13–75UCSCtwin BRCT domain
Microcephalinaa 225–607UCSCMicrocephalin protein

Gene Aliases

HGNC Name

microcephalin 1

HGNC Alias Symbols

FLJ12847; BRIT1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 339 variants
28 papers
NM_024596.5
p.S25*
c.74C>G
23 papers
NM_024596.5
p.S25*
c.74C>A
20 papers
NM_024596.5
p.T27R
c.80C>G
20 papers
NM_024596.5
p.T143insFs
c.427_428insA
10 papers
NM_024596.5
p.D314H
c.940G>C
10 papers
NM_024596.5
p.D392G
c.1175A>G
9 papers
NM_024596.5
p.S72L
c.215C>T
9 papers
NM_024596.5
p.W75R
c.223T>A
9 papers
NM_024596.5
p.W75R
c.223T>C
8 papers
NM_024596.5
p.N189insFs
c.566dupA
8 papers
NM_024596.5
p.E328K
c.982G>A
8 papers
NM_024596.5
p.S623_C624delFs
c.1869_1870delAT
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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."