Varaico: Literature-Extracted Genetic Variants

Gene:MCPH1
Variant:p.P334delFs

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.P334delFs
c.1002delT
Surrounding Variants
1 paper
NM_024596.5
p.P334L
c.1001C>T
1 paper
NM_024596.5
p.S333C
c.998C>G
1 paper
NM_024596.5
p.S333A
c.997T>G
1 paper
NM_024596.5
p.R331C
c.991C>T
1 paper
NM_024596.5
p.Y330C
c.989A>G
1 paper
NM_024596.5
p.Y330F
c.989A>T
8 papers
NM_024596.5
p.E328K
c.982G>A
1 paper
NM_024596.5
p.L343F
c.1027C>T
1 paper
NM_001322043.2
p.H344R
c.1031A>G
1 paper
NM_024596.5
p.S322A
c.964T>G
10 papers
NM_024596.5
p.D314H
c.940G>C
2 papers
NM_024596.5
p.K355N
c.1065G>C
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