Varaico: Literature-Extracted Genetic Variants

Gene:MCPH1
Variant:p.Q112_D124del13

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
1 paper
NM_024596.5
p.Q112_D124del13
c.334_371del39
Surrounding Variants
1 paper
NM_024596.5
p.D115A
c.344A>C
2 papers
NM_024596.5
p.F116delFs
c.348delT
1 paper
NM_024596.5
p.R108fs
c.322_323fs
1 paper
NM_024596.5
p.K107_R108Splc
c.322-1G>A
2 papers
NM_024596.5
p.K107_R108Splc
c.322-1G>C
1 paper
NM_024596.5
p.K107_R108Splc
c.322-2A>G
4 papers
NM_024596.5
p.K107_R108Splc
c.322-2A>T
1 paper
NM_024596.5
p.R108_Q112del5
c.322_335del15
1 paper
NM_024596.5
p.D124G
c.371A>G
1 paper
NM_024596.5
p.R126K
c.377G>A
1 paper
NM_024596.5
p.Q128_K129del2
c.382_386del6
1 paper
NM_024596.5
p.A135_K136insC
c.403_407ins3
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."