Varaico: Literature-Extracted Genetic Variants

Gene:KANSL1
Variant:p.S704L

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.S704L
c.2111C>T
Surrounding Variants
1 paper
NM_015443.4
p.K702_L703insCG
c.2104_2108ins6
2 papers
NM_015443.4
p.K701*
c.2101A>T
1 paper
NM_015443.4
p.A709T
c.2125G>A
1 paper
NM_015443.4
p.K696_K698del3
c.2086_2093del9
1 paper
NM_015443.4
p.P712fs
c.2134_2135fs
1 paper
NM_015443.4
p.S714C
c.2140A>T
1 paper
NM_015443.4
p.K692fs
c.2074_2075fs
1 paper
NM_015443.4
p.K692fs
c.2074_2075fs
1 paper
NM_015443.4
p.N691insFs
c.2072_2073insT
12 papers
NM_015443.4
p.S718P
c.2152T>C
3 papers
NM_015443.4
p.W689*
c.2067G>A
4 papers
NM_015443.4
p.W689*
c.2066G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."