Varaico: Literature-Extracted Genetic Variants

Gene:KAT6B
Variant:p.W1259fs

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
5 papers
NM_012330.4
p.W1259fs
c.3775_3776fs
Surrounding Variants
1 paper
NM_012330.4
p.W1259fs
c.3775_3776fs
1 paper
NM_012330.4
p.K1258fs
c.3772_3773fs
11 papers
NM_012330.4
p.K1258fs
c.3772_3773fs
3 papers
NM_012330.4
p.K1258insFs
c.3773dupA
7 papers
NM_012330.4
p.K1263delFs
c.3788_3789delAA
8 papers
NM_012330.4
p.S1257_K1258delFs
c.3769_3772del4
1 paper
NM_012330.4
p.K1263fs
c.3787_3788fs
10 papers
NM_012330.4
p.K1263fs
c.3787_3788fs
2 papers
NM_012330.4
p.G1255S
c.3763G>A
2 papers
NM_012330.4
p.R1254H
c.3761G>A
1 paper
NM_012330.4
p.R1254Fs
c.3761_3762delinsGFs
1 paper
NM_012330.4
p.R1254C
c.3760C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."