Varaico: Literature-Extracted Genetic Variants

Gene:MCPH1
Variant:p.K78Splc

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
2 papers
NM_024596.5
p.K78Splc
c.233+2T>G
Surrounding Variants
1 paper
NM_024596.5
p.V76V
c.228G>A
4 papers
NM_024596.5
p.V76V
c.228G>T
9 papers
NM_024596.5
p.W75R
c.223T>A
9 papers
NM_024596.5
p.W75R
c.223T>C
1 paper
NM_024596.5
p.L74I
c.220C>A
2 papers
NM_024596.5
p.V73G
c.218T>G
9 papers
NM_024596.5
p.S72L
c.215C>T
1 paper
NM_024596.5
p.R66T
c.197G>C
2 papers
NM_024596.5
p.D61G
c.182A>G
2 papers
NM_024596.5
p.T59A
c.175A>G
1 paper
NM_024596.5
p.Y56*
c.168C>A
1 paper
NM_024596.5
p.Y56*
c.168C>G
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