Varaico: Literature-Extracted Genetic Variants

Gene:KANSL1
Variant:p.T814S

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.T814S
c.2440A>T
Surrounding Variants
1 paper
NM_015443.4
p.T814S
c.2441C>G
9 papers
NM_015443.4
p.S808_S809del2
c.2422_2426del6
1 paper
NM_015443.4
p.H819Y
c.2455C>T
1 paper
NM_015443.4
p.S808L
c.2423C>T
1 paper
NM_015443.4
p.P821L
c.2462C>T
1 paper
NM_015443.4
p.L822V
c.2464T>G
1 paper
NM_015443.4
p.M805T
c.2414T>C
4 papers
NM_015443.4
p.R824*
c.2470C>T
1 paper
NM_015443.4
p.H801N
c.2401C>A
1 paper
NM_015443.4
p.S827F
c.2480C>T
1 paper
NM_015443.4
p.S827S
c.2481C>T
1 paper
NM_015443.4
p.T828I
c.2483C>T
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