Varaico: Literature-Extracted Genetic Variants

KAT6A

575 papers

RefSeq Summary

This gene encodes a member of the MOZ, YBFR2, SAS2, TIP60 family of histone acetyltransferases. The protein is composed of a nuclear localization domain, a double C2H2 zinc finger domain that binds to...

Pfam Domains

SAMD1_WHaa 11–73UCSCSAM domain-containing protein 1, WH domain

PHDaa 209–262UCSCPHD-finger

PHDaa 265–310UCSCPHD-finger

zf-MYSTaa 506–560UCSCMYST family zinc finger domain

MOZ_SASaa 565–743UCSCMOZ/SAS family

Gene Aliases

HGNC Name

lysine acetyltransferase 6A

HGNC Previous Symbols

ZNF220; RUNXBP2; MYST3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_006766.5

p.K19delFs

c.57delT

Surrounding Variants

1 paper

NM_006766.5

p.K22delFs

c.65_66delCT

1 paper

NM_006766.5

p.I17V

c.49A>G

1 paper

NM_006766.5

p.A16fs

c.46_47fs

1 paper

NM_006766.5

p.A16delFs

c.46delC

2 papers

NM_006766.5

p.A16fs

c.46_47fs

1 paper

NM_006766.5

p.W12*

c.36G>A

1 paper

NM_006766.5

p.W12*

c.35G>A

1 paper

NM_006766.5

p.E30A

c.89A>C

1 paper

NM_006766.5

p.L8L

c.24T>A

1 paper

NM_006766.5

p.R31K

c.92G>A

1 paper

NM_006766.5

p.P7delFs

c.20delG

2 papers

NM_006766.5

p.N34S

c.101A>G