Varaico: Literature-Extracted Genetic Variants

Gene:KANSL1
Variant:p.R19Q

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.R19Q
c.56G>A
Surrounding Variants
1 paper
NM_015443.4
p.I18M
c.54C>G
1 paper
NM_015443.4
p.I18T
c.53T>C
1 paper
NM_015443.4
p.H17Y
c.49C>T
1 paper
NM_015443.4
p.H16L
c.47A>T
1 paper
NM_015443.4
p.A7T
c.19G>A
1 paper
NM_015443.4
p.G32A
c.95G>C
1 paper
NM_015443.4
p.A5P
c.13G>C
1 paper
NM_015443.4
p.M4I
c.12G>C
1 paper
NM_015443.4
p.M4I
c.12G>A
1 paper
NM_015443.4
p.E35K
c.103G>A
2 papers
NM_015443.4
p.A3insFs
c.7dupG
1 paper
NM_015443.4
p.N36Y
c.106A>T
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