Varaico: Literature-Extracted Genetic Variants

Gene:KANSL1
Variant:p.L552fs

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.L552fs
c.1654_1655fs
Surrounding Variants
1 paper
NM_015443.4
p.L552I
c.1654C>A
1 paper
NM_015443.4
p.T551I
c.1652C>T
1 paper
NM_015443.4
p.T551Splc
c.1653-2A>G
1 paper
NM_015443.4
p.T551Splc
c.1653-6G>A
1 paper
NM_015443.4
p.T551Splc
c.1653-10C>G
1 paper
NM_015443.4
p.T551Splc
c.1653-11C>T
1 paper
NM_015443.4
p.L556W
c.1667T>G
1 paper
NM_015443.4
p.L556F
c.1668G>T
1 paper
NM_015443.4
p.L556F
c.1668G>C
1 paper
NM_015443.4
p.A557V
c.1670C>T
1 paper
NM_015443.4
p.D558H
c.1672G>C
1 paper
NM_015443.4
p.D558V
c.1673A>T
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