Varaico: Literature-Extracted Genetic Variants

Gene:PRDM8
Variant:p.L601L

PRDM8

64 papers

RefSeq Summary

This gene encodes a protein that belongs to a conserved family of histone methyltransferases that predominantly act as negative regulators of transcription. The encoded protein contains an N-terminal ...

Pfam Domains

PRDM2_PRaa 17–140UCSCPR domain zinc finger protein 2, PR domain
zf-C2H2_4aa 666–689UCSCC2H2-type zinc finger

Gene Aliases

HGNC Name

PR/SET domain 8

HGNC Alias Symbol

KMT8D

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001099403.2
p.L601L
c.1801T>C
Surrounding Variants
1 paper
NM_001099403.2
p.A593_G599del0
c.1779_1796del18
1 paper
NM_001099403.2
p.S615F
c.1844C>T
1 paper
NM_001099403.2
p.T617I
c.1850C>T
1 paper
NM_001099403.2
p.S618L
c.1853C>T
1 paper
NM_001099403.2
p.Q624H
c.1872G>C
1 paper
NM_001099403.2
p.Q624H
c.1872G>T
1 paper
NM_001099403.2
p.L576Q
c.1727T>A
1 paper
NM_001099403.2
p.L569L
c.1707G>A
1 paper
NM_001099403.2
p.G567A
c.1700G>C
1 paper
NM_001099403.2
p.G565D
c.1694G>A
1 paper
NM_001099403.2
p.D639N
c.1915G>A
3 papers
NM_001099403.2
p.K649_E651del3
c.1945_1952del9
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."