Varaico: Literature-Extracted Genetic Variants

Gene:KAT6B

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
1–12 of 862 variants
18 papers
NM_012330.4
p.P1049P
c.3147G>A
16 papers
NM_012330.4
p.E1104del1
c.3310_3311delGAA
14 papers
NM_012330.4
p.R1797*
c.5389C>T
13 papers
NM_012330.4
p.S1402fs
c.4204_4205fs
12 papers
NM_012330.4
p.S1402delFs
c.4205_4206delCT
11 papers
NM_012330.4
p.K1258fs
c.3772_3773fs
10 papers
NM_012330.4
p.K1263fs
c.3787_3788fs
9 papers
NM_012330.4
p.Y176*
c.528T>A
9 papers
NM_012330.4
p.Y176*
c.528T>G
9 papers
NM_012330.4
p.Q1737fs
c.5209_5210fs
8 papers
NM_012330.4
p.W987R
c.2959T>A
8 papers
NM_012330.4
p.W987R
c.2959T>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."