Varaico: Literature-Extracted Genetic Variants

Gene:KANSL1
Variant:p.K180fs

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
7 papers
NM_015443.4
p.K180fs
c.538_539fs
Surrounding Variants
2 papers
NM_015443.4
p.G179fs
c.535_536fs
2 papers
NM_015443.4
p.R181W
c.541C>T
6 papers
NM_015443.4
p.K180delFs
c.540delT
6 papers
NM_015443.4
p.N177_K180delFs
c.531_540del10
6 papers
NM_015443.4
p.G179fs
c.535_536fs
1 paper
NM_015443.4
p.N177_G178insFs
c.531_532insT
1 paper
NM_015443.4
p.A182A
c.546T>A
3 papers
NM_015443.4
p.N177S
c.530A>G
1 paper
NM_015443.4
p.L176I
c.526C>A
4 papers
NM_015443.4
p.G191fs
c.571_572fs
1 paper
NM_015443.4
p.G191C
c.571G>T
1 paper
NM_015443.4
p.G191R
c.571G>C
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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."