Varaico: Literature-Extracted Genetic Variants

Gene:KANSL1
Variant:p.R348*

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
10 papers
NM_015443.4
p.R348*
c.1042C>T
Surrounding Variants
1 paper
NM_015443.4
p.M345T
c.1034T>C
1 paper
NM_015443.4
p.Q343E
c.1027C>G
1 paper
NM_015443.4
p.S342R
c.1026C>A
1 paper
NM_015443.4
p.A353A
c.1059C>A
3 papers
NM_015443.4
p.R341Q
c.1022G>A
1 paper
NM_015443.4
p.R341W
c.1021C>T
1 paper
NM_015443.4
p.R339R
c.1015A>C
1 paper
NM_015443.4
p.S337S
c.1011C>G
1 paper
NM_015443.4
p.S337delins
c.1010_1011delinsTG
1 paper
NM_015443.4
p.S359R
c.1075A>C
1 paper
NM_015443.4
p.S359R
c.1077T>G
1 paper
NM_015443.4
p.S359R
c.1077T>A
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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."