Varaico: Literature-Extracted Genetic Variants

Gene:KMT5B

KMT5B

196 papers

RefSeq Summary

This gene encodes a protein that contains a SET domain. SET domains appear to be protein-protein interaction domains that mediate interactions with a family of proteins that display similarity with du...

Pfam Domains

SETaa 37–136UCSCSET domain

Gene Aliases

HGNC Name

lysine methyltransferase 5B

HGNC Previous Symbol

SUV420H1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 255 variants
10 papers
NM_017635.5
p.W264S
c.791G>C
9 papers
NM_017635.5
p.A513V
c.1538C>T
6 papers
NM_017635.5
p.R326Splc
c.977+1G>A
5 papers
NM_017635.5
p.R143C
c.427C>T
5 papers
NM_017635.5
p.R187*
c.559C>T
5 papers
NM_017635.5
p.N389fs
c.1165_1166fs
4 papers
NM_017635.5
p.S73delFs
c.219delG
4 papers
NM_017635.5
p.A74fs
c.220_221fs
4 papers
NM_017635.5
p.L242fs
c.724_725fs
4 papers
NM_017635.5
p.L242delFs
c.725delA
4 papers
NM_017635.5
p.N389insFs
c.1166dupA
4 papers
NM_017635.5
p.N520fs
c.1558_1559fs
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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."