Varaico: Literature-Extracted Genetic Variants

Gene:MCPH1
Variant:p.N189insFs

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
8 papers
NM_024596.5
p.N189insFs
c.566dupA
Surrounding Variants
1 paper
NM_024596.5
p.E188fs
c.562_563fs
1 paper
NM_024596.5
p.N189fs
c.565_566fs
1 paper
NM_024596.5
p.N189fs
c.565_566fs
1 paper
NM_024596.5
p.R179insFs
c.535_536insA
2 papers
NM_024596.5
p.A175_M176delFs
c.524_528del5
1 paper
NM_024596.5
p.H172R
c.515A>G
1 paper
NM_024596.5
p.R171R
c.513G>A
6 papers
NM_024596.5
p.R171S
c.513G>C
7 papers
NM_024596.5
p.R171S
c.513G>T
1 paper
NM_024596.5
p.I166S
c.497T>G
1 paper
NM_024596.5
p.S159S
c.477A>T
1 paper
NM_024596.5
p.S156S
c.468T>G
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