Varaico: Literature-Extracted Genetic Variants

Gene:KAT6B
Variant:p.E1447_S1448insFs

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.E1447_S1448insFs
c.4341_4342ins4
Surrounding Variants
1 paper
NM_012330.4
p.K1441fs
c.4321_4322fs
6 papers
NM_012330.4
p.K1441fs
c.4321_4322fs
1 paper
NM_012330.4
p.E1454K
c.4360G>A
1 paper
NM_012330.4
p.K1441insFs
c.4322dupA
1 paper
NM_012330.4
p.E1454fs
c.4360_4361fs
6 papers
NM_012330.4
p.E1454fs
c.4360_4361fs
5 papers
NM_012330.4
p.E1454_Q1456Fs
c.4360_4368delinsAAAAACCAAAAFs
3 papers
NM_012330.4
p.E1440_K1441delFs
c.4320_4321delGA
1 paper
NM_012330.4
p.Q1456_E1457insFs
c.4368_4369dupGG
1 paper
NM_012330.4
p.E1438K
c.4312G>A
1 paper
NM_012330.4
p.Q1456Fs
c.4368delinsAAAAACCAAAAFs
1 paper
NM_012330.4
p.E1438fs
c.4312_4313fs
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