Varaico: Literature-Extracted Genetic Variants

Gene:MCPH1
Variant:p.D622H

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.D622H
c.1864G>C
Surrounding Variants
1 paper
NM_024596.5
p.D622fs
c.1864_1865fs
8 papers
NM_024596.5
p.S623_C624delFs
c.1869_1870delAT
2 papers
NM_024596.5
p.C624fs
c.1870_1871fs
7 papers
NM_024596.5
p.C624*
c.1872T>A
1 paper
NM_024596.5
p.D625_G626insFs
c.1875_1876insGG
1 paper
NM_024596.5
p.G626C
c.1876G>T
1 paper
NM_024596.5
p.F627fs
c.1879_1880fs
1 paper
NM_024596.5
p.P614_D625del12
c.1840_1874del36
1 paper
NM_024596.5
p.R613I
c.1838G>T
1 paper
NM_024596.5
p.V610insFs
c.1828_1829insA
1 paper
NM_024596.5
p.H634R
c.1901A>G
1 paper
NM_024596.5
p.K645_P646Splc
c.1935+1G>T
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