Varaico: Literature-Extracted Genetic Variants

Gene:KAT6B
Variant:p.D1423G

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.D1423G
c.4268A>G
Surrounding Variants
1 paper
NM_012330.4
p.D1423A
c.4268A>C
1 paper
NM_012330.4
p.D1423V
c.4268A>T
1 paper
NM_012330.4
p.A1426A
c.4278C>T
1 paper
NM_012330.4
p.E1429K
c.4285G>A
1 paper
NM_012330.4
p.D1415N
c.4243G>A
1 paper
NM_012330.4
p.E1414*
c.4240G>T
2 papers
NM_012330.4
p.E1411*
c.4231G>T
1 paper
NM_012330.4
p.E1438_P1445delFs
c.4312_4334del23
1 paper
NM_012330.4
p.E1409*
c.4225G>T
1 paper
NM_012330.4
p.E1438K
c.4312G>A
1 paper
NM_012330.4
p.E1438fs
c.4312_4313fs
5 papers
NM_012330.4
p.E1438fs
c.4312_4313fs
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