Varaico: Literature-Extracted Genetic Variants

Gene:KANSL1
Variant:p.P835S

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.P835S
c.2503C>T
Surrounding Variants
1 paper
NM_015443.4
p.A834A
c.2502A>G
1 paper
NM_015443.4
p.A836T
c.2506G>A
1 paper
NM_015443.4
p.S837G
c.2509A>G
1 paper
NM_015443.4
p.D831E
c.2493T>G
1 paper
NM_015443.4
p.D831E
c.2493T>A
1 paper
NM_015443.4
p.S830S
c.2490A>G
1 paper
NM_015443.4
p.T828I
c.2483C>T
1 paper
NM_015443.4
p.V842I
c.2524G>A
1 paper
NM_015443.4
p.S827S
c.2481C>T
1 paper
NM_015443.4
p.S827F
c.2480C>T
1 paper
NM_015443.4
p.S845N
c.2534G>A
4 papers
NM_015443.4
p.R824*
c.2470C>T
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