Varaico: Literature-Extracted Genetic Variants

Gene:MCPH1
Variant:p.S459insFs

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.S459insFs
c.1377dupT
Surrounding Variants
3 papers
NM_024596.5
p.E457K
c.1369G>A
1 paper
NM_024596.5
p.V464I
c.1390G>A
1 paper
NM_024596.5
p.S454N
c.1361G>A
1 paper
NM_024596.5
p.T468delFs
c.1402delA
1 paper
NM_024596.5
p.E451K
c.1351G>A
1 paper
NM_024596.5
p.T468fs
c.1402_1403fs
2 papers
NM_024596.5
p.K450T
c.1349A>C
1 paper
NM_024596.5
p.F476F
c.1428C>T
2 papers
NM_024596.5
p.S438N
c.1313G>A
1 paper
NM_024596.5
p.Q434*
c.1300C>T
1 paper
NM_024596.5
p.R485G
c.1453C>G
1 paper
NM_024596.5
p.T487A
c.1459A>G
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."