Varaico: Literature-Extracted Genetic Variants

Gene:KDM8
Variant:p.P27S

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
1 paper
NM_024773.3
p.P27S
c.79C>T
Surrounding Variants
1 paper
NM_024773.3
p.P27L
c.80C>T
1 paper
NM_024773.3
p.L33R
c.98T>G
1 paper
NM_024773.3
p.G16C
c.46G>T
1 paper
NM_024773.3
p.L65L
c.193C>T
1 paper
NM_024773.3
p.L65L
c.195G>A
1 paper
NM_024773.3
p.R92H
c.275G>A
1 paper
NM_024773.3
p.R92P
c.275G>C
1 paper
NM_024773.3
p.L100L
c.300C>T
1 paper
NM_024773.3
p.A119delFs
c.357delC
1 paper
NM_024773.3
p.R121Q
c.362G>A
3 papers
NM_024773.3
p.C123Y
c.368G>A
1 paper
NM_024773.3
p.D124D
c.372C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."