Varaico: Literature-Extracted Genetic Variants

Gene:KANSL1
Variant:p.Q243*

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
6 papers
NM_015443.4
p.Q243*
c.727C>T
Surrounding Variants
1 paper
NM_015443.4
p.Q243E
c.727C>G
1 paper
NM_015443.4
p.Q243K
c.727C>A
2 papers
NM_015443.4
p.Q243H
c.729A>T
2 papers
NM_015443.4
p.Q243H
c.729A>C
1 paper
NM_015443.4
p.S246C
c.736A>T
1 paper
NM_015443.4
p.S246G
c.736A>G
1 paper
NM_015443.4
p.R247S
c.741A>T
1 paper
NM_015443.4
p.R247R
c.741A>G
1 paper
NM_015443.4
p.R247S
c.741A>C
1 paper
NM_015443.4
p.E238Q
c.712G>C
1 paper
NM_015443.4
p.M237L
c.709A>T
1 paper
NM_015443.4
p.P250T
c.748C>A
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