Varaico: Literature-Extracted Genetic Variants

Gene:KANSL1
Variant:p.L301*

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.L301*
c.902T>A
Surrounding Variants
2 papers
NM_015443.4
p.L301*
c.902T>G
3 papers
NM_015443.4
p.K303fs
c.907_908fs
1 paper
NM_015443.4
p.K303E
c.907A>G
2 papers
NM_015443.4
p.R299H
c.896G>A
1 paper
NM_015443.4
p.K303fs
c.907_908fs
2 papers
NM_015443.4
p.R299C
c.895C>T
1 paper
NM_015443.4
p.R304C
c.910C>T
5 papers
NM_015443.4
p.K303delFs
c.908_909delCT
1 paper
NM_015443.4
p.R304H
c.911G>A
1 paper
NM_015443.4
p.R304R
c.912C>T
1 paper
NM_015443.4
p.R297C
c.889C>T
1 paper
NM_015443.4
p.Q306fs
c.916_917fs
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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."