Varaico: Literature-Extracted Genetic Variants

Gene:KAT6B
Variant:p.L154R

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.L154R
c.461T>G
Surrounding Variants
1 paper
NM_012330.4
p.R153Q
c.458G>A
1 paper
NM_012330.4
p.G155E
c.464G>A
1 paper
NM_012330.4
p.A156D
c.467C>A
1 paper
NM_012330.4
p.A156V
c.467C>T
1 paper
NM_012330.4
p.R158C
c.472C>T
1 paper
NM_012330.4
p.N161K
c.483T>A
1 paper
NM_012330.4
p.N145I
c.434A>T
1 paper
NM_012330.4
p.N144fs
c.430_431fs
1 paper
NM_012330.4
p.T143_N144insFs
c.429_430ins13
1 paper
NM_012330.4
p.T142I
c.425C>T
1 paper
NM_012330.4
p.T140I
c.419C>T
1 paper
NM_012330.4
p.T140A
c.418A>G
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