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.G1579G

c.4737G>A

Surrounding Variants

1 paper

NM_006766.5

p.G1579G

c.4737G>C

1 paper

NM_006766.5

p.N1580S

c.4739A>G

1 paper

NM_006766.5

p.S1582S

c.4746T>G

1 paper

NM_006766.5

p.S1576C

c.4726A>T

2 papers

NM_006766.5

p.D1570N

c.4708G>A

1 paper

NM_006766.5

p.Y1589C

c.4766A>G

1 paper

NM_006766.5

p.Y1589Y

c.4767C>T

5 papers

NM_006766.5

p.G1590V

c.4769G>T

1 paper

NM_006766.5

p.E1564D

c.4692G>T

1 paper

NM_006766.5

p.S1593_S1594del1

c.4779_4781delGAC

1 paper

NM_006766.5

p.E1564*

c.4690G>T

6 papers

NM_006766.5

p.Y1563delFs

c.4688_4689delAT