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.S1487delFs

c.4459_4460delAG

Surrounding Variants

1 paper

NM_012330.4

p.S1487_E1488delFs

c.4461_4464del4

1 paper

NM_012330.4

p.S1487fs

c.4459_4460fs

1 paper

NM_012330.4

p.N1486fs

c.4456_4457fs

2 papers

NM_012330.4

p.C1485insFs

c.4455dupT

1 paper

NM_012330.4

p.S1484C

c.4451C>G

2 papers

NM_012330.4

p.E1491*

c.4471G>T

1 paper

NM_012330.4

p.A1493V

c.4478C>T

1 paper

NM_012330.4

p.D1480N

c.4438G>A

1 paper

NM_012330.4

p.D1476fs

c.4426_4427fs

1 paper

NM_012330.4

p.A1498T

c.4492G>A

5 papers

NM_012330.4

p.V1499I

c.4495G>A

1 paper

NM_012330.4

p.L1474_C1485del12

c.4420_4454del36