Varaico: Literature-Extracted Genetic Variants

Gene:KDM1A
Variant:p.S569*

KDM1A

241 papers

RefSeq Summary

This gene encodes a nuclear protein containing a SWIRM domain, a FAD-binding motif, and an amine oxidase domain. This protein is a component of several histone deacetylase complexes, though it silence...

Pfam Domains

SWIRMaa 181–264UCSCSWIRM domain
Amino_oxidaseaa 288–832UCSCFlavin containing amine oxidoreductase

Gene Aliases

HGNC Name

lysine demethylase 1A

HGNC Previous Symbols

AOF2; KDM1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001009999.3
p.S569*
c.1706C>A
Surrounding Variants
1 paper
NM_001009999.3
p.S569*
c.1706C>G
1 paper
NM_001009999.3
p.S572delFs
c.1714_1715delTC
1 paper
NM_001009999.3
p.S572fs
c.1714_1715fs
1 paper
NM_001009999.3
p.T566_S569del4
c.1696_1706del12
1 paper
NM_001009999.3
p.Q578insFs
c.1733dupA
1 paper
NM_001009999.3
p.Q578R
c.1733A>G
2 papers
NM_001009999.3
p.H556R
c.1667A>G
1 paper
NM_001009999.3
p.R550insFs
c.1648dupA
1 paper
NM_001009999.3
p.R548Fs
c.1642_1643delinsCFs
1 paper
NM_001009999.3
p.L545fs
c.1633_1634fs
1 paper
NM_001009999.3
p.Y544insFs
c.1631_1632dupAT
2 papers
NM_001009999.3
p.S541Splc
c.1623-1G>A
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