Varaico: Literature-Extracted Genetic Variants

Gene:KANSL1
Variant:p.N230D

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
4 papers
NM_015443.4
p.N230D
c.688A>G
Surrounding Variants
1 paper
NM_015443.4
p.K231_S233delins
c.692_697delinsATGACT
1 paper
NM_015443.4
p.S227N
c.680G>A
1 paper
NM_015443.4
p.S232S
c.696C>T
1 paper
NM_015443.4
p.S232_S233del1
c.696_698delGAG
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.N225Y
c.673A>T
10 papers
NM_015443.4
p.N225D
c.673A>G
1 paper
NM_015443.4
p.V234_N235insFs
c.702_703insCG
1 paper
NM_015443.4
p.M237L
c.709A>T
1 paper
NM_015443.4
p.E238Q
c.712G>C
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