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

1 paper

NM_012330.4

p.R1898Q

c.5693G>A

Surrounding Variants

1 paper

NM_012330.4

p.L1896*

c.5687T>A

1 paper

NM_012330.4

p.L1895H

c.5684T>A

1 paper

NM_012330.4

p.P1892L

c.5675C>T

1 paper

NM_012330.4

p.N1890K

c.5670T>A

1 paper

NM_012330.4

p.N1890K

c.5670T>G

4 papers

NM_012330.4

p.Q1911*

c.5731C>T

5 papers

NM_012330.4

p.R1912*

c.5734A>T

2 papers

NM_012330.4

p.N1883fs

c.5647_5648fs

2 papers

NM_012330.4

p.N1883fs

c.5647_5648fs

4 papers

NM_012330.4

p.P1882delFs

c.5646delC

1 paper

NM_012330.4

p.Q1916*

c.5746C>T

2 papers

NM_012330.4

p.I1917V

c.5749A>G