Varaico: Literature-Extracted Genetic Variants

Gene:MCPH1
Variant:p.L405P

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
2 papers
NM_024596.5
p.L405P
c.1214T>C
Surrounding Variants
1 paper
NM_024596.5
p.A404V
c.1211C>T
3 papers
NM_024596.5
p.E409K
c.1225G>A
1 paper
NM_024596.5
p.A398V
c.1193C>T
1 paper
NM_024596.5
p.H396N
c.1186C>A
3 papers
NM_024596.5
p.R393delFs
c.1179delG
2 papers
NM_024596.5
p.R393fs
c.1177_1178fs
10 papers
NM_024596.5
p.D392G
c.1175A>G
NM_001172575.2
p.D344G
c.1031A>G
NM_001322045.2
p.D358G
c.1073A>G
NM_001322043.2
p.D390G
c.1169A>G
3 papers
NM_024596.5
p.P418delFs
c.1254delT
1 paper
NM_024596.5
p.D419fs
c.1255_1256fs
1 paper
NM_024596.5
p.L421_K422insA
c.1261_1265ins3
1 paper
NM_024596.5
p.E423K
c.1267G>A
7 papers
NM_024596.5
p.Y425N
c.1273T>A
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