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

1–12 of 928 variants

25 papers

NM_006766.5

p.R1129*

c.3385C>T

21 papers

NM_006766.5

p.R1024*

c.3070C>T

14 papers

NM_006766.5

p.G1549S

c.4645G>A

12 papers

NM_006766.5

p.S1113*

c.3338C>G

12 papers

NM_006766.5

p.S1113*

c.3338C>A

11 papers

NM_006766.5

p.E1221*

c.3661G>T

10 papers

NM_006766.5

p.L134S

c.401T>C

10 papers

NM_006766.5

p.C1096fs

c.3286_3287fs

10 papers

NM_006766.5

p.E1370*

c.4108G>T

9 papers

NM_006766.5

p.R79*

c.235C>T

9 papers

NM_006766.5

p.E1294fs

c.3880_3881fs

9 papers

NM_006766.5

p.S1418_E1419delFs

c.4254_4257del4