Varaico: Literature-Extracted Genetic Variants

Gene:MCPH1
Variant:p.T566_T567insA

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
3 papers
NM_024596.5
p.T566_T567insA
c.1696_1700ins3
Surrounding Variants
1 paper
NM_024596.5
p.S571*
c.1712C>A
1 paper
NM_024596.5
p.S571*
c.1712C>G
2 papers
NM_024596.5
p.E551*
c.1651G>T
1 paper
NM_024596.5
p.E546K
c.1636G>A
1 paper
NM_024596.5
p.I587V
c.1759A>G
2 papers
NM_024596.5
p.L542*
c.1625T>A
2 papers
NM_024596.5
p.L542*
c.1625T>G
2 papers
NM_024596.5
p.C590delFs
c.1769delG
1 paper
NM_024596.5
p.D539G
c.1616A>G
1 paper
NM_024596.5
p.T594M
c.1781C>T
3 papers
NM_024596.5
p.T594T
c.1782G>A
1 paper
NM_024596.5
p.S595C
c.1784C>G
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