Varaico: Literature-Extracted Genetic Variants

Gene:KANSL1
Variant:p.S718P

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
12 papers
NM_015443.4
p.S718P
c.2152T>C
Surrounding Variants
1 paper
NM_015443.4
p.P712_A719delFs
c.2135_2156del22
2 papers
NM_015443.4
p.R720C
c.2158C>T
1 paper
NM_015443.4
p.R720insFs
c.2159_2160insCG
1 paper
NM_015443.4
p.R720fs
c.2158_2159fs
1 paper
NM_015443.4
p.D722N
c.2164G>A
1 paper
NM_015443.4
p.K721_D722delins
c.2163_2164delinsAA
1 paper
NM_015443.4
p.S714C
c.2140A>T
1 paper
NM_015443.4
p.P712fs
c.2134_2135fs
1 paper
NM_015443.4
p.H724P
c.2171A>C
1 paper
NM_015443.4
p.A709T
c.2125G>A
1 paper
NM_015443.4
p.S728delFs
c.2184delG
1 paper
NM_015443.4
p.S704L
c.2111C>T
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