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.V47D

c.140T>A

Surrounding Variants

1 paper

NM_006766.5

p.L48delFs

c.143_144delTA

1 paper

NM_006766.5

p.E49_Q50insFs

c.147_148ins10

1 paper

NM_006766.5

p.L53S

c.158T>C

1 paper

NM_006766.5

p.H40Y

c.118C>T

1 paper

NM_006766.5

p.S38L

c.113C>T

1 paper

NM_006766.5

p.K56fs

c.166_167fs

1 paper

NM_006766.5

p.A35T

c.103G>A

2 papers

NM_006766.5

p.N34S

c.101A>G

1 paper

NM_006766.5

p.R31K

c.92G>A

1 paper

NM_006766.5

p.E30A

c.89A>C

4 papers

NM_006766.5

p.N65fs

c.193_194fs

1 paper

NM_006766.5

p.N65fs

c.193_194fs