Varaico: Literature-Extracted Genetic Variants

Gene:KANSL1
Variant:p.G547*

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
6 papers
NM_015443.4
p.G547*
c.1639G>T
Surrounding Variants
5 papers
NM_015443.4
p.G547_I549delFs
c.1639_1646del8
1 paper
NM_015443.4
p.N550D
c.1648A>G
1 paper
NM_015443.4
p.N550N
c.1650C>T
1 paper
NM_015443.4
p.T551I
c.1652C>T
1 paper
NM_015443.4
p.L542H
c.1625T>A
10 papers
NM_015443.4
p.T551Splc
c.1652+1G>A
3 papers
NM_015443.4
p.T551Splc
c.1652+2T>C
3 papers
NM_015443.4
p.T551Splc
c.1652+5G>C
6 papers
NM_015443.4
p.S531_G540del10
c.1591_1619del30
1 paper
NM_015443.4
p.C539Y
c.1616G>A
1 paper
NM_015443.4
p.S538L
c.1613C>T
1 paper
NM_015443.4
p.T536A
c.1606A>G
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."