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.S137R

c.411T>G

Surrounding Variants

1 paper

NM_012330.4

p.S137R

c.411T>A

1 paper

NM_012330.4

p.S137R

c.409A>C

1 paper

NM_012330.4

p.Q136R

c.407A>G

1 paper

NM_012330.4

p.T140A

c.418A>G

1 paper

NM_012330.4

p.T140I

c.419C>T

1 paper

NM_012330.4

p.T142I

c.425C>T

1 paper

NM_012330.4

p.T143_N144insFs

c.429_430ins13

1 paper

NM_012330.4

p.N144fs

c.430_431fs

1 paper

NM_012330.4

p.N145I

c.434A>T

1 paper

NM_012330.4

p.E130K

c.388G>A

1 paper

NM_012330.4

p.S124F

c.371C>T

1 paper

NM_012330.4

p.G123D

c.368G>A