Varaico: Literature-Extracted Genetic Variants

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

2 papers

NM_012330.4

p.P1343fs

c.4027_4028fs

Surrounding Variants

2 papers

NM_012330.4

p.K1342insFs

c.4026dupA

1 paper

NM_012330.4

p.G1340fs

c.4018_4019fs

1 paper

NM_012330.4

p.D1346Y

c.4036G>T

1 paper

NM_012330.4

p.K1349R

c.4046A>G

1 paper

NM_012330.4

p.E1351Q

c.4051G>C

2 papers

NM_012330.4

p.E1351*

c.4051G>T

1 paper

NM_012330.4

p.V1333insFs

c.3998dupT

1 paper

NM_012330.4

p.V1333L

c.3997G>T

2 papers

NM_012330.4

p.P1332fs

c.3994_3995fs

1 paper

NM_012330.4

p.E1354fs

c.4060_4061fs

1 paper

NM_012330.4

p.E1354_E1355ins1

c.4062_4063insGAG

2 papers

NM_012330.4

p.E1355del1

c.4063_4064delGAG