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

4 papers

NM_012330.4

p.K1124fs

c.3370_3371fs

Surrounding Variants

1 paper

NM_012330.4

p.K1124fs

c.3370_3371fs

1 paper

NM_012330.4

p.R1123fs

c.3367_3368fs

1 paper

NM_012330.4

p.Q1117*

c.3349C>T

5 papers

NM_012330.4

p.Q1117fs

c.3349_3350fs

4 papers

NM_012330.4

p.Q1117delFs

c.3349_3350delCA

3 papers

NM_012330.4

p.K1115T

c.3344A>C

1 paper

NM_012330.4

p.K1115delins

c.3343_3344delinsCC

1 paper

NM_012330.4

p.K1115insFs

c.3345dupA

1 paper

NM_012330.4

p.T1114insFs

c.3341_3342insG

1 paper

NM_012330.4

p.S1109F

c.3326C>T

1 paper

NM_012330.4

p.E1102V

c.3305A>T

1 paper

NM_012330.4

p.E1099G

c.3296A>G