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

3 papers

NM_012330.4

p.D1227_K1232delFs

c.3680_3695del16

Surrounding Variants

1 paper

NM_012330.4

p.D1227N

c.3679G>A

1 paper

NM_012330.4

p.D1227fs

c.3679_3680fs

5 papers

NM_012330.4

p.D1227fs

c.3679_3680fs

1 paper

NM_012330.4

p.D1227E

c.3681T>A

1 paper

NM_012330.4

p.D1227E

c.3681T>G

2 papers

NM_012330.4

p.S1229G

c.3685A>G

1 paper

NM_012330.4

p.M1224insFs

c.3670dupA

1 paper

NM_012330.4

p.E1240K

c.3718G>A

1 paper

NM_012330.4

p.K1243N

c.3729G>C

1 paper

NM_012330.4

p.K1243N

c.3729G>T

3 papers

NM_012330.4

p.Q1246*

c.3736C>T

2 papers

NM_012330.4

p.P1249delFs

c.3747delA