Varaico: Literature-Extracted Genetic Variants

Gene:KAT6B
Variant:p.D1077E

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
6 papers
NM_012330.4
p.D1077E
c.3231C>G
Surrounding Variants
6 papers
NM_012330.4
p.D1077E
c.3231C>A
1 paper
NM_012330.4
p.E1076E
c.3228G>A
1 paper
NM_012330.4
p.E1076D
c.3228G>C
1 paper
NM_012330.4
p.E1076D
c.3228G>T
2 papers
NM_012330.4
p.E1079_E1082del0
c.3235_3246del12
1 paper
NM_012330.4
p.E1080K
c.3238G>A
1 paper
NM_012330.4
p.E1081*
c.3241G>T
1 paper
NM_012330.4
p.E1081E
c.3243A>G
2 papers
NM_012330.4
p.E1074_D1077del0
c.3220_3231del12
1 paper
NM_012330.4
p.E1073fs
c.3217_3218fs
1 paper
NM_012330.4
p.E1073fs
c.3217_3218fs
4 papers
NM_012330.4
p.E1076_D1077del1
c.3228_3230delGGA
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