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.S1705F

c.5114C>T

Surrounding Variants

1 paper

NM_012330.4

p.S1705_Y1706delFs

c.5115_5116delCT

1 paper

NM_012330.4

p.Y1706fs

c.5116_5117fs

4 papers

NM_012330.4

p.Y1706*

c.5118T>A

4 papers

NM_012330.4

p.Y1706*

c.5118T>G

1 paper

NM_012330.4

p.S1711fs

c.5131_5132fs

4 papers

NM_012330.4

p.S1711fs

c.5131_5132fs

1 paper

NM_012330.4

p.S1717R

c.5149A>C

1 paper

NM_012330.4

p.S1693N

c.5078G>A

1 paper

NM_012330.4

p.S1717R

c.5151C>A

1 paper

NM_012330.4

p.S1717R

c.5151C>G

1 paper

NM_012330.4

p.M1690fs

c.5068_5069fs

5 papers

NM_012330.4

p.M1690fs

c.5068_5069fs