Varaico: Literature-Extracted Genetic Variants

Gene:KANSL1
Variant:p.R392del1

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.R392del1
c.1174_1176delCCT
Surrounding Variants
1 paper
NM_015443.4
p.E395*
c.1183G>T
1 paper
NM_015443.4
p.E395E
c.1185A>G
1 paper
NM_015443.4
p.Q396*
c.1186C>T
1 paper
NM_015443.4
p.Q396L
c.1187A>T
1 paper
NM_015443.4
p.A389V
c.1166C>T
1 paper
NM_015443.4
p.A397T
c.1189G>A
1 paper
NM_015443.4
p.I388V
c.1162A>G
1 paper
NM_015443.4
p.S386I
c.1157G>T
1 paper
NM_015443.4
p.E381G
c.1142A>G
1 paper
NM_015443.4
p.E381Q
c.1141G>C
1 paper
NM_015443.4
p.L380W
c.1139T>G
1 paper
NM_015443.4
p.L380L
c.1138T>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."