Varaico: Literature-Extracted Genetic Variants

Gene:KANSL1
Variant:p.W689*

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
4 papers
NM_015443.4
p.W689*
c.2066G>A
Surrounding Variants
3 papers
NM_015443.4
p.W689*
c.2067G>A
1 paper
NM_015443.4
p.N691insFs
c.2072_2073insT
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.F681insFs
c.2042_2043insA
1 paper
NM_015443.4
p.F681fs
c.2041_2042fs
1 paper
NM_015443.4
p.K696_K698del3
c.2086_2093del9
2 papers
NM_015443.4
p.K701*
c.2101A>T
1 paper
NM_015443.4
p.K702_L703insCG
c.2104_2108ins6
1 paper
NM_015443.4
p.S704L
c.2111C>T
1 paper
NM_015443.4
p.D674G
c.2021A>G
2 papers
NM_015443.4
p.D674N
c.2020G>A
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