Varaico: Literature-Extracted Genetic Variants

Gene:KANSL1
Variant:p.G195E

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.G195E
c.584G>A
Surrounding Variants
1 paper
NM_015443.4
p.E192K
c.574G>A
1 paper
NM_015443.4
p.G191fs
c.571_572fs
5 papers
NM_015443.4
p.G191delFs
c.572delC
4 papers
NM_015443.4
p.G191fs
c.571_572fs
1 paper
NM_015443.4
p.G191C
c.571G>T
1 paper
NM_015443.4
p.G191R
c.571G>C
1 paper
NM_015443.4
p.G204D
c.611G>A
7 papers
NM_015443.4
p.G204insFs
c.611dupG
1 paper
NM_015443.4
p.G204fs
c.610_611fs
1 paper
NM_015443.4
p.G204delFs
c.611delC
8 papers
NM_015443.4
p.M205fs
c.613_614fs
1 paper
NM_015443.4
p.N207S
c.620A>G
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