Varaico: Literature-Extracted Genetic Variants

Gene:MCPH1
Variant:p.T143insFs

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.T143insFs
c.427_428insA
Surrounding Variants
1 paper
NM_024596.5
p.Q141fs
c.421_422fs
3 papers
NM_024596.5
p.T143fs
c.427_428fs
1 paper
NM_024596.5
p.L138R
c.413T>G
1 paper
NM_024596.5
p.K136E
c.406A>G
5 papers
NM_024596.5
p.D146Splc
c.436+1G>T
1 paper
NM_024596.5
p.A135V
c.404C>T
1 paper
NM_024596.5
p.A135_K136insC
c.403_407ins3
1 paper
NM_024596.5
p.Q128_K129del2
c.382_386del6
1 paper
NM_024596.5
p.R126K
c.377G>A
1 paper
NM_024596.5
p.D124G
c.371A>G
1 paper
NM_024596.5
p.D115A
c.344A>C
2 papers
NM_024596.5
p.F116delFs
c.348delT
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