Varaico: Literature-Extracted Genetic Variants

Gene:KANSL1
Variant:p.T282K

KANSL1

272 papers

RefSeq Summary

This gene encodes a nuclear protein that is a subunit of two protein complexes involved with histone acetylation, the MLL1 complex and the NSL1 complex. The encoded protein has been implicated in a va...

Pfam Domains

PEHEaa 885–1035UCSCPEHE domain

Gene Aliases

HGNC Name

KAT8 regulatory NSL complex subunit 1

HGNC Previous Symbol

KIAA1267

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015443.4
p.T282K
c.845C>A
Surrounding Variants
1 paper
NM_015443.4
p.R283R
c.849G>A
1 paper
NM_015443.4
p.D279V
c.836A>T
1 paper
NM_015443.4
p.A286A
c.858T>C
1 paper
NM_015443.4
p.L288L
c.862C>T
1 paper
NM_015443.4
p.R289W
c.865C>T
1 paper
NM_015443.4
p.F275L
c.825C>G
1 paper
NM_015443.4
p.F275L
c.825C>A
1 paper
NM_015443.4
p.R289Q
c.866G>A
1 paper
NM_015443.4
p.F275L
c.823T>C
7 papers
NM_015443.4
p.R290*
c.868C>T
1 paper
NM_015443.4
p.R290Q
c.869G>A
2 papers
NM_015443.4
p.S272S
c.816C>T
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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."