Varaico: Literature-Extracted Genetic Variants

Gene:KANSL1
Variant:p.M237L

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.M237L
c.709A>T
Surrounding Variants
1 paper
NM_015443.4
p.E238Q
c.712G>C
1 paper
NM_015443.4
p.V234_N235insFs
c.702_703insCG
1 paper
NM_015443.4
p.S233insFs
c.699dupT
1 paper
NM_015443.4
p.S233del1
c.697_698delAGA
1 paper
NM_015443.4
p.V234fs
c.700_701fs
1 paper
NM_015443.4
p.S232_S233del1
c.696_698delGAG
1 paper
NM_015443.4
p.S232S
c.696C>T
1 paper
NM_015443.4
p.K231_S233delins
c.692_697delinsATGACT
6 papers
NM_015443.4
p.Q243*
c.727C>T
1 paper
NM_015443.4
p.Q243E
c.727C>G
1 paper
NM_015443.4
p.Q243K
c.727C>A
2 papers
NM_015443.4
p.Q243H
c.729A>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."