Varaico: Literature-Extracted Genetic Variants

Gene:KANSL1
Variant:p.G409G

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.G409G
c.1227G>A
Surrounding Variants
1 paper
NM_015443.4
p.E410D
c.1230G>T
1 paper
NM_015443.4
p.E410D
c.1230G>C
1 paper
NM_015443.4
p.E410E
c.1230G>A
1 paper
NM_015443.4
p.E416E
c.1248A>G
1 paper
NM_015443.4
p.A397T
c.1189G>A
1 paper
NM_015443.4
p.D422V
c.1265A>T
2 papers
NM_015443.4
p.P423fs
c.1267_1268fs
1 paper
NM_015443.4
p.Q396L
c.1187A>T
1 paper
NM_015443.4
p.Q396*
c.1186C>T
1 paper
NM_015443.4
p.P423P
c.1269C>T
1 paper
NM_015443.4
p.E395E
c.1185A>G
1 paper
NM_015443.4
p.E424K
c.1270G>A
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