Varaico: Literature-Extracted Genetic Variants

Gene:KDM8
Variant:p.D323A

KDM8

37 papers

RefSeq Summary

This gene likely encodes a histone lysine demethylase. Studies of a similar protein in mouse indicate a potential role for this protein as a tumor suppressor. Alternatively spliced transcript variants...

Pfam Domains

ARM_KDM8_Naa 59–152UCSCKDM8-like, N-terminal ARM repeats
Cupin_8aa 192–416UCSCCupin-like domain

Gene Aliases

HGNC Name

lysine demethylase 8

HGNC Previous Symbol

JMJD5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_024773.3
p.D323A
c.968A>C
Surrounding Variants
1 paper
NM_024773.3
p.E304del1
c.910_911delGAA
1 paper
NM_024773.3
p.E302delFs
c.905delA
1 paper
NM_024773.3
p.E302fs
c.904_905fs
1 paper
NM_024773.3
p.G300_E301del1
c.900_902delGGA
1 paper
NM_024773.3
p.D293N
c.877G>A
1 paper
NM_024773.3
p.G334R
c.1000G>A
1 paper
NM_024773.3
p.G334R
c.1000G>C
1 paper
NM_024773.3
p.I338_R339del1
c.1014_1016delCCG
1 paper
NM_024773.3
p.T354T
c.1062G>A
1 paper
NM_024773.3
p.L357del1
c.1069_1070delCTC
2 papers
NM_001145348.2
p.D407Y
c.1219G>T
NM_024773.3
p.D369Y
c.1105G>T
1 paper
NM_024773.3
p.C384Y
c.1151G>A
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