Varaico: Literature-Extracted Genetic Variants

Gene:KANSL1
Variant:p.H572Y

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.H572Y
c.1714C>T
Surrounding Variants
2 papers
NM_015443.4
p.R576*
c.1726C>T
1 paper
NM_015443.4
p.V580L
c.1738G>C
1 paper
NM_015443.4
p.V580I
c.1738G>A
1 paper
NM_015443.4
p.D563D
c.1689C>T
1 paper
NM_015443.4
p.G562C
c.1684G>T
1 paper
NM_015443.4
p.S583*
c.1748C>G
1 paper
NM_015443.4
p.S583*
c.1748C>A
1 paper
NM_015443.4
p.I560V
c.1678A>G
1 paper
NM_015443.4
p.H559R
c.1676A>G
1 paper
NM_015443.4
p.D558V
c.1673A>T
1 paper
NM_015443.4
p.D558H
c.1672G>C
1 paper
NM_015443.4
p.A557V
c.1670C>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."