Varaico: Literature-Extracted Genetic Variants

Gene:MCPH1
Variant:p.N301S

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
Selected Variant
1 paper
NM_024596.5
p.N301S
c.902A>G
Surrounding Variants
6 papers
NM_024596.5
p.L302_I306delFs
c.904_916del13
1 paper
NM_024596.5
p.R304fs
c.910_911fs
2 papers
NM_024596.5
p.R304fs
c.910_911fs
2 papers
NM_024596.5
p.R304I
c.911G>T
1 paper
NM_024596.5
p.A307S
c.919G>T
2 papers
NM_024596.5
p.S293G
c.877A>G
3 papers
NM_024596.5
p.V310I
c.928G>A
1 paper
NM_024596.5
p.L292insFs
c.874_875insA
1 paper
NM_024596.5
p.V311G
c.932T>G
10 papers
NM_024596.5
p.D314H
c.940G>C
3 papers
NM_024596.5
p.P288H
c.863C>A
1 paper
NM_024596.5
p.S287R
c.861T>A
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."