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.I1307fs

c.3919_3920fs

Surrounding Variants

1 paper

NM_012330.4

p.E1308del1

c.3922_3923delGAG

1 paper

NM_012330.4

p.R1306fs

c.3916_3917fs

1 paper

NM_012330.4

p.E1309insFs

c.3925dupG

1 paper

NM_012330.4

p.I1305insFs

c.3914_3915insC

1 paper

NM_012330.4

p.R1306_I1307insFs

c.3918_3919ins7

1 paper

NM_012330.4

p.E1309fs

c.3925_3926fs

1 paper

NM_012330.4

p.E1309fs

c.3925_3926fs

1 paper

NM_012330.4

p.E1310Q

c.3928G>C

2 papers

NM_012330.4

p.S1303G

c.3907A>G

1 paper

NM_012330.4

p.S1303fs

c.3907_3908fs

1 paper

NM_012330.4

p.S1301delFs

c.3903delC

1 paper

NM_012330.4

p.E1313G

c.3938A>G