Varaico: Literature-Extracted Genetic Variants

Gene:KANSL1
Variant:p.I376I

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.I376I
c.1128T>A
Surrounding Variants
1 paper
NM_015443.4
p.I376V
c.1126A>G
1 paper
NM_015443.4
p.S375L
c.1124C>T
1 paper
NM_015443.4
p.L380L
c.1138T>C
1 paper
NM_015443.4
p.S373T
c.1118G>C
1 paper
NM_015443.4
p.L380W
c.1139T>G
1 paper
NM_015443.4
p.K372K
c.1116A>G
1 paper
NM_015443.4
p.E381Q
c.1141G>C
1 paper
NM_015443.4
p.E381G
c.1142A>G
1 paper
NM_015443.4
p.N369S
c.1106A>G
1 paper
NM_015443.4
p.S386I
c.1157G>T
1 paper
NM_015443.4
p.I388V
c.1162A>G
3 papers
NM_015443.4
p.S364*
c.1091C>G
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