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.R1052P

c.3155G>C

Surrounding Variants

1 paper

NM_012330.4

p.R1052W

c.3154C>T

1 paper

NM_012330.4

p.R1052_P1053del2

c.3154_3158del6

1 paper

NM_012330.4

p.S1051fs

c.3151_3152fs

4 papers

NM_012330.4

p.S1051delFs

c.3152delG

4 papers

NM_012330.4

p.S1051fs

c.3151_3152fs

1 paper

NM_012330.4

p.V1054A

c.3161T>C

1 paper

NM_012330.4

p.E1050fs

c.3148_3149fs

18 papers

NM_012330.4

p.P1049P

c.3147G>A

1 paper

NM_012330.4

p.P1049L

c.3146C>T

1 paper

NM_012330.4

p.P1049delFs

c.3147delG

1 paper

NM_012330.4

p.E1057insFs

c.3169dupG

1 paper

NM_012330.4

p.E1057fs

c.3169_3170fs