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

16 papers

NM_012330.4

p.E1104del1

c.3310_3311delGAA

Surrounding Variants

6 papers

NM_012330.4

p.E1096_E1097ins1

c.3288_3289insGAA

3 papers

NM_012330.4

p.E1103_E1104del0

c.3307_3312del6

1 paper

NM_012330.4

p.E1097_E1098ins8

c.3289_3293ins24

1 paper

NM_012330.4

p.E1097E

c.3291A>G

1 paper

NM_012330.4

p.E1098E

c.3294A>G

1 paper

NM_012330.4

p.E1099G

c.3296A>G

3 papers

NM_012330.4

p.E1094fs

c.3280_3281fs

1 paper

NM_012330.4

p.E1094fs

c.3280_3281fs

4 papers

NM_012330.4

p.E1094delFs

c.3280delG

1 paper

NM_012330.4

p.E1102V

c.3305A>T

2 papers

NM_012330.4

p.D1090E

c.3270T>A

2 papers

NM_012330.4

p.D1090E

c.3270T>G