Varaico: Literature-Extracted Genetic Variants

Gene:KANSL1
Variant:p.G100fs

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.G100fs
c.298_299fs
Surrounding Variants
1 paper
NM_015443.4
p.Q99_S103delFs
c.297_307del11
12 papers
NM_015443.4
p.K104T
c.311A>C
1 paper
NM_015443.4
p.T106I
c.317C>T
1 paper
NM_015443.4
p.V107delFs
c.319delC
1 paper
NM_015443.4
p.S89F
c.266C>T
1 paper
NM_015443.4
p.H111Y
c.331C>T
1 paper
NM_015443.4
p.H111_P112delins
c.333_335delinsACT
1 paper
NM_015443.4
p.A80insFs
c.238dupG
1 paper
NM_015443.4
p.A80fs
c.238_239fs
1 paper
NM_015443.4
p.L120L
c.360C>A
1 paper
NM_015443.4
p.R121*
c.361C>T
1 paper
NM_015443.4
p.Q76H
c.228A>T
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