Varaico: Literature-Extracted Genetic Variants

Gene:MCPH1
Variant:p.D314H

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
10 papers
NM_024596.5
p.D314H
c.940G>C
Surrounding Variants
1 paper
NM_024596.5
p.V311G
c.932T>G
3 papers
NM_024596.5
p.V310I
c.928G>A
1 paper
NM_024596.5
p.A307S
c.919G>T
1 paper
NM_024596.5
p.S322A
c.964T>G
2 papers
NM_024596.5
p.R304I
c.911G>T
1 paper
NM_024596.5
p.R304fs
c.910_911fs
2 papers
NM_024596.5
p.R304fs
c.910_911fs
6 papers
NM_024596.5
p.L302_I306delFs
c.904_916del13
1 paper
NM_024596.5
p.N301S
c.902A>G
8 papers
NM_024596.5
p.E328K
c.982G>A
1 paper
NM_024596.5
p.Y330C
c.989A>G
1 paper
NM_024596.5
p.Y330F
c.989A>T
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."