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.E1085del1

c.3253_3254delGAA

Surrounding Variants

1 paper

NM_012330.4

p.E1084_E1092delins

c.3252_3276delinsAGAGGATGAA

1 paper

NM_012330.4

p.E1085V

c.3254A>T

1 paper

NM_012330.4

p.E1085D

c.3255A>C

1 paper

NM_012330.4

p.E1085D

c.3255A>T

1 paper

NM_012330.4

p.E1086*

c.3256G>T

1 paper

NM_012330.4

p.E1086D

c.3258A>C

1 paper

NM_012330.4

p.E1086D

c.3258A>T

1 paper

NM_012330.4

p.E1081E

c.3243A>G

2 papers

NM_012330.4

p.D1090_E1093del0

c.3270_3278del9

1 paper

NM_012330.4

p.E1088insFs

c.3264dupA

1 paper

NM_012330.4

p.E1081*

c.3241G>T

1 paper

NM_012330.4

p.E1089K

c.3265G>A