Varaico: Literature-Extracted Genetic Variants

Gene:MCPH1
Variant:p.D419fs

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.D419fs
c.1255_1256fs
Surrounding Variants
3 papers
NM_024596.5
p.P418delFs
c.1254delT
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
6 papers
NM_024596.5
p.E427_N428insA
c.1279_1283ins3
3 papers
NM_024596.5
p.E409K
c.1225G>A
2 papers
NM_024596.5
p.L405P
c.1214T>C
1 paper
NM_024596.5
p.A404V
c.1211C>T
1 paper
NM_024596.5
p.Q434*
c.1300C>T
2 papers
NM_024596.5
p.S438N
c.1313G>A
1 paper
NM_024596.5
p.A398V
c.1193C>T
1 paper
NM_024596.5
p.H396N
c.1186C>A
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