Varaico: Literature-Extracted Genetic Variants

Gene:KAT6B
Variant:p.E1366_G1369ins1

KAT6B

460 papers

RefSeq Summary

The protein encoded by this gene is a histone acetyltransferase and component of the MOZ/MORF protein complex. In addition to its acetyltransferase activity, the encoded protein has transcriptional ac...

Pfam Domains

SAMD1_WHaa 11–73UCSCSAM domain-containing protein 1, WH domain
PHDaa 272–317UCSCPHD-finger
zf-MYSTaa 717–771UCSCMYST family zinc finger domain
MOZ_SASaa 776–954UCSCMOZ/SAS family

Gene Aliases

HGNC Name

lysine acetyltransferase 6B

HGNC Previous Symbol

MYST4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012330.4
p.E1366_G1369ins1
c.4097_4105dup9
Surrounding Variants
1 paper
NM_012330.4
p.E1360del1
c.4078_4079delGAA
1 paper
NM_012330.4
p.E1358insFs
c.4072dupG
7 papers
NM_012330.4
p.E1357*
c.4069G>T
1 paper
NM_012330.4
p.E1363*
c.4087G>T
1 paper
NM_012330.4
p.E1363_E1364delFs
c.4089_4092del4
1 paper
NM_012330.4
p.E1356fs
c.4066_4067fs
1 paper
NM_012330.4
p.E1356delFs
c.4066delG
1 paper
NM_012330.4
p.E1364*
c.4090G>T
1 paper
NM_012330.4
p.E1364fs
c.4090_4091fs
1 paper
NM_012330.4
p.E1354_E1355ins1
c.4062_4063insGAG
2 papers
NM_012330.4
p.E1355del1
c.4063_4064delGAG
3 papers
NM_012330.4
p.E1358_E1360del0
c.4074_4079del6
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