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

5 papers

NM_012330.4

p.S1831*

c.5492C>A

NM_001256468.2

p.S1648*

c.4943C>A

Surrounding Variants

5 papers

NM_001256468.2

p.S1648*

c.4943C>G

NM_012330.4

p.S1831*

c.5492C>G

2 papers

NM_012330.4

p.Y1834*

c.5502C>A

2 papers

NM_012330.4

p.Y1834*

c.5502C>G

2 papers

NM_012330.4

p.A1838T

c.5512G>A

1 paper

NM_012330.4

p.A1838S

c.5512G>T

1 paper

NM_012330.4

p.S1846T

c.5537G>C

4 papers

NM_012330.4

p.F1815fs

c.5443_5444fs

1 paper

NM_012330.4

p.Q1810*

c.5428C>T

5 papers

NM_012330.4

p.Y1808*

c.5424C>A

5 papers

NM_012330.4

p.Y1808*

c.5424C>G

1 paper

NM_012330.4

p.A1805V

c.5414C>T

1 paper

NM_012330.4

p.Q1860_L1861del2

c.5578_5582del6