Varaico: Literature-Extracted Genetic Variants

Gene:KDM1A
Variant:p.G173Splc

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
2 papers
NM_001009999.3
p.G173Splc
c.517+1G>A
Surrounding Variants
1 paper
NM_001009999.3
p.S172A
c.514T>G
1 paper
NM_001009999.3
p.P171P
c.513A>T
1 paper
NM_001009999.3
p.E167A
c.500A>C
1 paper
NM_001009999.3
p.E165A
c.494A>C
1 paper
NM_001009999.3
p.P152T
c.454C>A
1 paper
NM_001009999.3
p.K150M
c.449A>T
1 paper
NM_001009999.3
p.K147_P153insFs
c.439_457dup19
1 paper
NM_001009999.3
p.E138D
c.414A>T
1 paper
NM_001009999.3
p.E138K
c.412G>A
1 paper
NM_001009999.3
p.S137A
c.409T>G
1 paper
NM_001009999.3
p.Y136_S137delFs
c.408_411del4
1 paper
NM_001009999.3
p.S131A
c.391T>G
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