Varaico: Literature-Extracted Genetic Variants

Gene:MCPH1
Variant:p.T27R

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
20 papers
NM_024596.5
p.T27R
c.80C>G
NM_001322043.2
p.T25R
c.74C>G
Surrounding Variants
1 paper
NM_024596.5
p.K26N
c.78G>C
1 paper
NM_024596.5
p.K26N
c.78G>T
23 papers
NM_024596.5
p.S25*
c.74C>A
28 papers
NM_024596.5
p.S25*
c.74C>G
1 paper
NM_001322043.2
p.T27R
c.80C>G
1 paper
NM_024596.5
p.N23Y
c.67A>T
1 paper
NM_024596.5
p.L32delFs
c.94delC
1 paper
NM_024596.5
p.N23_F28delFs
c.67_83del17
2 papers
NM_024596.5
p.E22K
c.64G>A
1 paper
NM_024596.5
p.V33fs
c.97_98fs
1 paper
NM_024596.5
p.V33G
c.98T>G
1 paper
NM_024596.5
p.G20R
c.58G>A
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