Varaico: Literature-Extracted Genetic Variants

Gene:MCPH1
Variant:p.I274N

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.I274N
c.821T>A
Surrounding Variants
1 paper
NM_024596.5
p.N273S
c.818A>G
1 paper
NM_024596.5
p.N273delFs
c.817_818delAA
1 paper
NM_024596.5
p.A271fs
c.811_812fs
1 paper
NM_024596.5
p.A271delFs
c.811delG
1 paper
NM_024596.5
p.S266L
c.797C>T
1 paper
NM_024596.5
p.D284N
c.850G>A
1 paper
NM_024596.5
p.I264V
c.790A>G
1 paper
NM_024596.5
p.C263G
c.787T>G
1 paper
NM_024596.5
p.V262fs
c.784_785fs
1 paper
NM_024596.5
p.S287R
c.859A>C
1 paper
NM_024596.5
p.D261E
c.783T>A
1 paper
NM_024596.5
p.D261E
c.783T>G
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