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

3 papers

NM_006766.5

p.S1485S

c.4455C>T

Surrounding Variants

1 paper

NM_006766.5

p.S1488F

c.4463C>T

2 papers

NM_006766.5

p.Q1487_S1488Fs

c.4460_4463delinsGTGFs

1 paper

NM_006766.5

p.H1489Y

c.4465C>T

1 paper

NM_006766.5

p.H1489N

c.4465C>A

1 paper

NM_006766.5

p.H1489P

c.4466A>C

1 paper

NM_006766.5

p.S1493*

c.4478C>G

1 paper

NM_006766.5

p.S1493*

c.4478C>A

4 papers

NM_006766.5

p.R1495C

c.4483C>T

3 papers

NM_006766.5

p.R1495H

c.4484G>A

1 paper

NM_006766.5

p.S1496L

c.4487C>T

1 paper

NM_006766.5

p.D1465_V1471del7

c.4393_4412del21

2 papers

NM_006766.5

p.N1501fs

c.4501_4502fs