Varaico: Literature-Extracted Genetic Variants

Gene:KANSL1
Variant:p.S256F

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
2 papers
NM_015443.4
p.S256F
c.767C>T
Surrounding Variants
1 paper
NM_015443.4
p.L258S
c.773T>C
1 paper
NM_015443.4
p.S254A
c.760T>G
1 paper
NM_015443.4
p.S254P
c.760T>C
1 paper
NM_015443.4
p.G260fs
c.778_779fs
1 paper
NM_015443.4
p.G260A
c.779G>C
1 paper
NM_015443.4
p.G260insFs
c.779dupG
1 paper
NM_015443.4
p.V261V
c.783C>G
1 paper
NM_015443.4
p.P250T
c.748C>A
1 paper
NM_015443.4
p.R247S
c.741A>T
1 paper
NM_015443.4
p.R247R
c.741A>G
1 paper
NM_015443.4
p.R247S
c.741A>C
1 paper
NM_015443.4
p.G265delFs
c.795delA
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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."