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

8 papers

NM_012330.4

p.W987R

c.2959T>C

Surrounding Variants

8 papers

NM_012330.4

p.W987R

c.2959T>A

1 paper

NM_012330.4

p.R986T

c.2957G>C

1 paper

NM_012330.4

p.D983E

c.2949C>A

1 paper

NM_012330.4

p.D983E

c.2949C>G

1 paper

NM_012330.4

p.L980F

c.2938C>T

1 paper

NM_012330.4

p.A996T

c.2986G>A

1 paper

NM_012330.4

p.R976G

c.2926A>G

2 papers

NM_012330.4

p.S998T

c.2992T>A

1 paper

NM_012330.4

p.S975F

c.2924C>T

1 paper

NM_012330.4

p.E999Q

c.2995G>C

1 paper

NM_012330.4

p.C974R

c.2920T>C

4 papers

NM_012330.4

p.R1002*

c.3004C>T