Varaico: Literature-Extracted Genetic Variants

Gene:KAT6B
Variant:p.R1957W

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.R1957W
c.5869C>T
Surrounding Variants
1 paper
NM_012330.4
p.R1957Q
c.5870G>A
1 paper
NM_012330.4
p.L1959delFs
c.5876delT
1 paper
NM_012330.4
p.L1959*
c.5876T>A
1 paper
NM_012330.4
p.L1959*
c.5876T>G
1 paper
NM_012330.4
p.N1966insFs
c.5898dupC
2 papers
NM_012330.4
p.R1946H
c.5837G>A
2 papers
NM_012330.4
p.R1946C
c.5836C>T
2 papers
NM_012330.4
p.Q1940delFs
c.5819delA
2 papers
NM_012330.4
p.Q1940fs
c.5818_5819fs
1 paper
NM_012330.4
p.A1974V
c.5921C>T
1 paper
NM_012330.4
p.A1937S
c.5809G>T
1 paper
NM_012330.4
p.N1978S
c.5933A>G
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