Varaico: Literature-Extracted Genetic Variants

Gene:KDM8
Variant:p.I263I

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
2 papers
NM_024773.3
p.I263I
c.789C>A
Surrounding Variants
1 paper
NM_024773.3
p.S241L
c.722C>T
1 paper
NM_024773.3
p.E238A
c.713A>C
1 paper
NM_024773.3
p.E197G
c.590A>G
1 paper
NM_024773.3
p.R186L
c.557G>T
1 paper
NM_024773.3
p.E181*
c.541G>T
1 paper
NM_024773.3
p.D171Y
c.511G>T
1 paper
NM_024773.3
p.R169K
c.506G>A
1 paper
NM_024773.3
p.D293N
c.877G>A
1 paper
NM_024773.3
p.G300_E301del1
c.900_902delGGA
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.E304del1
c.910_911delGAA
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