Varaico: Literature-Extracted Genetic Variants

Gene:KANSL1
Variant:p.K311R

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.K311R
c.932A>G
Surrounding Variants
3 papers
NM_015443.4
p.K311fs
c.931_932fs
3 papers
NM_015443.4
p.A310delFs
c.930delG
1 paper
NM_015443.4
p.R297_V307del11
c.889_920del33
1 paper
NM_015443.4
p.Q306delFs
c.916delG
1 paper
NM_015443.4
p.Q306fs
c.916_917fs
5 papers
NM_015443.4
p.Q306*
c.916C>T
1 paper
NM_015443.4
p.I317V
c.949A>G
1 paper
NM_015443.4
p.I317delFs
c.949delT
1 paper
NM_015443.4
p.R304R
c.912C>T
1 paper
NM_015443.4
p.R304H
c.911G>A
1 paper
NM_015443.4
p.R304C
c.910C>T
5 papers
NM_015443.4
p.K303delFs
c.908_909delCT
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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."