Varaico: Literature-Extracted Genetic Variants

Gene:KANSL1
Variant:p.L1042fs

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
3 papers
NM_015443.4
p.L1042fs
c.3124_3125fs
Surrounding Variants
2 papers
NM_015443.4
p.L1042fs
c.3124_3125fs
5 papers
NM_015443.4
p.L1042delFs
c.3125delA
1 paper
NM_015443.4
p.A1043V
c.3128C>T
1 paper
NM_015443.4
p.F1040S
c.3119T>C
1 paper
NM_015443.4
p.T1039I
c.3116C>T
1 paper
NM_015443.4
p.Q1053E
c.3157C>G
1 paper
NM_015443.4
p.Q1057*
c.3169C>T
1 paper
NM_015443.4
p.Q1057R
c.3170A>G
1 paper
NM_015443.4
p.Q1057_E1058delFs
c.3171_3172delCC
1 paper
NM_015443.4
p.R1059*
c.3175C>T
1 paper
NM_015443.4
p.R1062H
c.3185G>A
2 papers
NM_015443.4
p.R1066H
c.3197G>A
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