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.E999Q

c.2995G>C

Surrounding Variants

2 papers

NM_012330.4

p.S998T

c.2992T>A

4 papers

NM_012330.4

p.R1002*

c.3004C>T

1 paper

NM_012330.4

p.A996T

c.2986G>A

1 paper

NM_012330.4

p.R1002Q

c.3005G>A

1 paper

NM_012330.4

p.A1004D

c.3011C>A

1 paper

NM_012330.4

p.E1005insFs

c.3014_3015insG

1 paper

NM_012330.4

p.K1006insFs

c.3018dupA

3 papers

NM_012330.4

p.K1006delFs

c.3018delA

1 paper

NM_012330.4

p.E1007fs

c.3019_3020fs

5 papers

NM_012330.4

p.E1007fs

c.3019_3020fs

2 papers

NM_012330.4

p.E1007_A1008Splc

c.3021+1G>C

8 papers

NM_012330.4

p.W987R

c.2959T>A