Varaico: Literature-Extracted Genetic Variants

Gene:MCPH1
Variant:p.T59A

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.T59A
c.175A>G
Surrounding Variants
2 papers
NM_024596.5
p.D61G
c.182A>G
1 paper
NM_024596.5
p.Y56*
c.168C>A
1 paper
NM_024596.5
p.Y56*
c.168C>G
1 paper
NM_024596.5
p.Y56S
c.167A>C
1 paper
NM_024596.5
p.R66T
c.197G>C
3 papers
NM_024596.5
p.I51V
c.151A>G
5 papers
NM_024596.5
p.V50G
c.149T>G
1 paper
NM_024596.5
p.V50I
c.148G>A
4 papers
NM_024596.5
p.H49Q
c.147C>A
5 papers
NM_024596.5
p.H49Q
c.147C>G
1 paper
NM_024596.5
p.H49R
c.146A>G
2 papers
NM_024596.5
p.T48I
c.143C>T
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