Varaico: Literature-Extracted Genetic Variants

Gene:MCPH1
Variant:p.E530A

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.E530A
c.1589A>C
Surrounding Variants
1 paper
NM_024596.5
p.I529S
c.1586T>G
1 paper
NM_024596.5
p.P535_K536insA
c.1603_1607ins3
1 paper
NM_024596.5
p.P535R
c.1604C>G
2 papers
NM_024596.5
p.G524_T528del5
c.1570_1583del15
1 paper
NM_024596.5
p.D539G
c.1616A>G
5 papers
NM_024596.5
p.E521*
c.1561G>T
2 papers
NM_024596.5
p.L542*
c.1625T>A
2 papers
NM_024596.5
p.L542*
c.1625T>G
1 paper
NM_024596.5
p.D517Y
c.1549G>T
1 paper
NM_024596.5
p.E546K
c.1636G>A
2 papers
NM_024596.5
p.E551*
c.1651G>T
2 papers
NM_024596.5
p.V499M
c.1495G>A
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