Varaico: Literature-Extracted Genetic Variants

Gene:KANSL1
Variant:p.E70V

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
2 papers
NM_015443.4
p.E70V
c.209A>T
Surrounding Variants
2 papers
NM_015443.4
p.D71G
c.212A>G
1 paper
NM_015443.4
p.G73G
c.219A>G
1 paper
NM_015443.4
p.R64P
c.191G>C
1 paper
NM_015443.4
p.R64Q
c.191G>A
1 paper
NM_015443.4
p.R64*
c.190C>T
1 paper
NM_015443.4
p.Q76H
c.228A>T
1 paper
NM_015443.4
p.A80fs
c.238_239fs
1 paper
NM_015443.4
p.A80insFs
c.238dupG
1 paper
NM_015443.4
p.A53T
c.157G>A
1 paper
NM_015443.4
p.R51K
c.152G>A
1 paper
NM_015443.4
p.S89F
c.266C>T
1 paper
NM_015443.4
p.K50*
c.148A>T
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