Varaico: Literature-Extracted Genetic Variants

Gene:KANSL1
Variant:p.F275L

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.F275L
c.823T>C
Surrounding Variants
1 paper
NM_015443.4
p.F275L
c.825C>G
1 paper
NM_015443.4
p.F275L
c.825C>A
2 papers
NM_015443.4
p.S272S
c.816C>T
1 paper
NM_015443.4
p.K266_L270delFs
c.798_810del13
12 papers
NM_015443.4
p.L270delFs
c.808_809delAG
1 paper
NM_015443.4
p.D279V
c.836A>T
9 papers
NM_015443.4
p.L270fs
c.808_809fs
1 paper
NM_015443.4
p.P269S
c.805C>T
1 paper
NM_015443.4
p.S268F
c.803C>T
2 papers
NM_015443.4
p.S268P
c.802T>C
2 papers
NM_015443.4
p.K267fs
c.799_800fs
1 paper
NM_015443.4
p.K267delFs
c.799_800delTT
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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."