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

10 papers

NM_012330.4

p.Q1737fs

c.5209_5210fs

NM_001256468.2

p.Q1554fs

c.4660_4661fs

Surrounding Variants

4 papers

NM_012330.4

p.Q1737*

c.5209C>T

1 paper

NM_012330.4

p.Q1737H

c.5211A>C

1 paper

NM_012330.4

p.Q1737H

c.5211A>T

1 paper

NM_012330.4

p.Q1736*

c.5206C>T

2 papers

NM_012330.4

p.T1738I

c.5213C>T

1 paper

NM_012330.4

p.M1734fs

c.5200_5201fs

8 papers

NM_012330.4

p.M1734_Q1737insFs

c.5201_5210dup10

NM_001256468.2

p.M1551_Q1554insFs

c.4652_4661dup10

1 paper

NM_012330.4

p.M1734_Q1737delFs

c.5201_5210del10

1 paper

NM_012330.4

p.P1743_P1744ins9

c.5227_5231ins27

1 paper

NM_012330.4

p.G1730R

c.5188G>A

1 paper

NM_012330.4

p.I1728M

c.5184C>G

1 paper

NM_012330.4

p.C1746*

c.5238C>A