Varaico: Literature-Extracted Genetic Variants

Gene:KDM1A
Variant:p.R848fs

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.R848fs
c.2542_2543fs
Surrounding Variants
1 paper
NM_001009999.3
p.G847insFs
c.2540dupG
1 paper
NM_001009999.3
p.A846fs
c.2536_2537fs
1 paper
NM_001009999.3
p.R844P
c.2531G>C
1 paper
NM_001009999.3
p.F853_R862del10
c.2557_2585del30
1 paper
NM_001009999.3
p.R844_A846delFs
c.2532_2538del7
2 papers
NM_001009999.3
p.A838V
c.2513C>T
1 paper
NM_001009999.3
p.V835A
c.2504T>C
1 paper
NM_001009999.3
p.R862H
c.2585G>A
1 paper
NM_001009999.3
p.Y831S
c.2492A>C
1 paper
NM_001009999.3
p.Y831C
c.2492A>G
1 paper
NM_001009999.3
p.T865_P866del2
c.2593_2597del6
1 paper
NM_001009999.3
p.R829_N830delFs
c.2485_2488del4
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