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

6 papers

NM_006766.5

p.Y1563*

c.4689T>G

Surrounding Variants

1 paper

NM_006766.5

p.Y1563fs

c.4687_4688fs

6 papers

NM_006766.5

p.Y1563*

c.4689T>A

1 paper

NM_006766.5

p.E1564*

c.4690G>T

6 papers

NM_006766.5

p.Y1563delFs

c.4688_4689delAT

1 paper

NM_006766.5

p.E1564D

c.4692G>T

1 paper

NM_006766.5

p.T1559delFs

c.4675delT

4 papers

NM_006766.5

p.S1558R

c.4674C>G

4 papers

NM_006766.5

p.S1558R

c.4674C>A

4 papers

NM_006766.5

p.S1558R

c.4672A>C

2 papers

NM_006766.5

p.D1570N

c.4708G>A

1 paper

NM_006766.5

p.E1557Q

c.4669G>C

1 paper

NM_006766.5

p.I1556T

c.4667T>C