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.K1013_K1014Splc

c.3040-5A>G

Surrounding Variants

1 paper

NM_006766.5

p.F1016delFs

c.3048delA

2 papers

NM_006766.5

p.L1017fs

c.3049_3050fs

6 papers

NM_006766.5

p.R1019*

c.3055C>T

1 paper

NM_006766.5

p.R1020T

c.3059G>C

21 papers

NM_006766.5

p.R1024*

c.3070C>T

2 papers

NM_006766.5

p.R1026C

c.3076C>T

1 paper

NM_006766.5

p.R1026H

c.3077G>A

1 paper

NM_006766.5

p.S1032fs

c.3094_3095fs

1 paper

NM_006766.5

p.E1036K

c.3106G>A

1 paper

NM_006766.5

p.S1032_E1036delFs

c.3096_3106del11

1 paper

NM_006766.5

p.S1039Y

c.3116C>A

1 paper

NM_006766.5

p.S1039Fs

c.3116_3117delinsAFs