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

1 paper

NM_006766.5

p.Y1084N

c.3250T>A

Surrounding Variants

2 papers

NM_006766.5

p.R1086C

c.3256C>T

1 paper

NM_006766.5

p.R1087C

c.3259C>T

4 papers

NM_006766.5

p.N1077delFs

c.3230delT

1 paper

NM_006766.5

p.S1090L

c.3269C>T

7 papers

NM_006766.5

p.N1077fs

c.3229_3230fs

1 paper

NM_006766.5

p.E1076K

c.3226G>A

1 paper

NM_006766.5

p.E1073ins1

c.3218_3219insGGA

4 papers

NM_006766.5

p.C1096insFs

c.3286_3287insC

10 papers

NM_006766.5

p.C1096fs

c.3286_3287fs

1 paper

NM_006766.5

p.C1096insFs

c.3286dupT

2 papers

NM_006766.5

p.C1096fs

c.3286_3287fs

3 papers

NM_006766.5

p.C1096delFs

c.3287delC