Varaico: Literature-Extracted Genetic Variants

Gene:KANSL1
Variant:p.L430Splc

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.L430Splc
c.1289+9A>C
Surrounding Variants
3 papers
NM_015443.4
p.L430Splc
c.1289+1G>A
1 paper
NM_015443.4
p.L430Splc
c.1289+18A>G
1 paper
NM_015443.4
p.P429T
c.1285C>A
1 paper
NM_015443.4
p.V428_P429insN
c.1282_1286ins3
1 paper
NM_015443.4
p.V428I
c.1282G>A
1 paper
NM_015443.4
p.R426P
c.1277G>C
1 paper
NM_015443.4
p.R426H
c.1277G>A
1 paper
NM_015443.4
p.R426C
c.1276C>T
1 paper
NM_015443.4
p.E424K
c.1270G>A
2 papers
NM_015443.4
p.P423delFs
c.1268_1269delGG
1 paper
NM_015443.4
p.P423P
c.1269C>T
2 papers
NM_015443.4
p.P423fs
c.1267_1268fs
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