Varaico: Literature-Extracted Genetic Variants

Gene:MCPH1
Variant:p.S159S

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.S159S
c.477A>T
Surrounding Variants
1 paper
NM_024596.5
p.S156S
c.468T>G
1 paper
NM_024596.5
p.S156insFs
c.467_468insT
1 paper
NM_024596.5
p.I166S
c.497T>G
1 paper
NM_024596.5
p.I151V
c.451A>G
1 paper
NM_024596.5
p.P150L
c.449C>T
2 papers
NM_024596.5
p.V149I
c.445G>A
1 paper
NM_024596.5
p.D148E
c.444T>A
1 paper
NM_024596.5
p.D148E
c.444T>G
1 paper
NM_024596.5
p.R171R
c.513G>A
6 papers
NM_024596.5
p.R171S
c.513G>C
7 papers
NM_024596.5
p.R171S
c.513G>T
1 paper
NM_024596.5
p.H172R
c.515A>G
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