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.Q1321*

c.3961C>T

Surrounding Variants

1 paper

NM_012330.4

p.Q1321fs

c.3961_3962fs

2 papers

NM_012330.4

p.Q1321delFs

c.3962_3963delAA

5 papers

NM_012330.4

p.Q1321fs

c.3961_3962fs

1 paper

NM_012330.4

p.P1320S

c.3958C>T

2 papers

NM_012330.4

p.L1319F

c.3957G>C

2 papers

NM_012330.4

p.L1319F

c.3957G>T

1 paper

NM_012330.4

p.E1313G

c.3938A>G

2 papers

NM_012330.4

p.P1332delFs

c.3995delC

2 papers

NM_012330.4

p.P1332fs

c.3994_3995fs

1 paper

NM_012330.4

p.E1310Q

c.3928G>C

1 paper

NM_012330.4

p.E1309fs

c.3925_3926fs

1 paper

NM_012330.4

p.V1333insFs

c.3998dupT