Varaico: Literature-Extracted Genetic Variants

Gene:KANSL1
Variant:p.N225D

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.N225D
c.673A>G
Surrounding Variants
1 paper
NM_015443.4
p.N225Y
c.673A>T
1 paper
NM_015443.4
p.S227N
c.680G>A
3 papers
NM_015443.4
p.T221I
c.662C>T
1 paper
NM_015443.4
p.T221S
c.662C>G
1 paper
NM_015443.4
p.T221S
c.661A>T
4 papers
NM_015443.4
p.N230D
c.688A>G
1 paper
NM_015443.4
p.K231_S233delins
c.692_697delinsATGACT
1 paper
NM_015443.4
p.S232S
c.696C>T
1 paper
NM_015443.4
p.D216E
c.648T>G
1 paper
NM_015443.4
p.D216E
c.648T>A
3 papers
NM_015443.4
p.D216delFs
c.647delT
1 paper
NM_015443.4
p.S232_S233del1
c.696_698delGAG
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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."