Varaico: Literature-Extracted Genetic Variants

Gene:KANSL1
Variant:p.D216E

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.D216E
c.648T>G
Surrounding Variants
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.D216A
c.647A>C
3 papers
NM_015443.4
p.D216fs
c.646_647fs
1 paper
NM_015443.4
p.T221S
c.661A>T
3 papers
NM_015443.4
p.H212R
c.635A>G
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.P211A
c.631C>G
1 paper
NM_015443.4
p.N225Y
c.673A>T
10 papers
NM_015443.4
p.N225D
c.673A>G
1 paper
NM_015443.4
p.N207S
c.620A>G
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