Varaico: Literature-Extracted Genetic Variants

Gene:KANSL1
Variant:p.I530I

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.I530I
c.1590T>A
Surrounding Variants
2 papers
NM_015443.4
p.E532fs
c.1594_1595fs
2 papers
NM_015443.4
p.E532delFs
c.1595_1596delCT
1 paper
NM_015443.4
p.S533S
c.1599A>G
2 papers
NM_015443.4
p.P525_I526delFs
c.1574_1578del5
1 paper
NM_015443.4
p.S535S
c.1605T>C
1 paper
NM_015443.4
p.P525R
c.1574C>G
1 paper
NM_015443.4
p.T536A
c.1606A>G
2 papers
NM_015443.4
p.P525fs
c.1573_1574fs
1 paper
NM_015443.4
p.G523A
c.1568G>C
1 paper
NM_015443.4
p.S538L
c.1613C>T
1 paper
NM_015443.4
p.C539Y
c.1616G>A
1 paper
NM_015443.4
p.N521K
c.1563C>G
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