Varaico: Literature-Extracted Genetic Variants

Gene:KANSL1
Variant:p.R592W

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
5 papers
NM_015443.4
p.R592W
c.1774C>T
Surrounding Variants
1 paper
NM_015443.4
p.R592G
c.1774C>G
1 paper
NM_015443.4
p.R592Q
c.1775G>A
1 paper
NM_015443.4
p.T587_A590delFs
c.1760_1770del11
2 papers
NM_015443.4
p.R592insFs
c.1776dupG
1 paper
NM_015443.4
p.T593fs
c.1777_1778fs
1 paper
NM_015443.4
p.T593T
c.1779A>G
1 paper
NM_015443.4
p.R594P
c.1781G>C
1 paper
NM_015443.4
p.R594H
c.1781G>A
1 paper
NM_015443.4
p.T587fs
c.1759_1760fs
1 paper
NM_015443.4
p.K600R
c.1799A>G
1 paper
NM_015443.4
p.S583*
c.1748C>G
1 paper
NM_015443.4
p.S583*
c.1748C>A
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