Varaico: Literature-Extracted Genetic Variants

Gene:KANSL1
Variant:p.L519fs

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.L519fs
c.1555_1556fs
Surrounding Variants
2 papers
NM_015443.4
p.L519delFs
c.1556delA
1 paper
NM_015443.4
p.N521K
c.1563C>G
1 paper
NM_015443.4
p.S516C
c.1547C>G
1 paper
NM_015443.4
p.N521K
c.1563C>A
1 paper
NM_015443.4
p.V515delFs
c.1543_1544delAC
1 paper
NM_015443.4
p.S514S
c.1542T>G
1 paper
NM_015443.4
p.G523A
c.1568G>C
2 papers
NM_015443.4
p.P525fs
c.1573_1574fs
1 paper
NM_015443.4
p.P525R
c.1574C>G
1 paper
NM_015443.4
p.L511_I512Splc
c.1534-1G>C
2 papers
NM_015443.4
p.P525_I526delFs
c.1574_1578del5
1 paper
NM_015443.4
p.I530I
c.1590T>A
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