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

7 papers

NM_006766.5

p.P1651L

c.4952C>T

Surrounding Variants

1 paper

NM_006766.5

p.P1653S

c.4957C>T

1 paper

NM_006766.5

p.Q1649*

c.4945C>T

2 papers

NM_006766.5

p.P1654L

c.4961C>T

1 paper

NM_006766.5

p.Q1648P

c.4943A>C

1 paper

NM_006766.5

p.Q1647H

c.4941G>T

1 paper

NM_006766.5

p.Q1647H

c.4941G>C

1 paper

NM_006766.5

p.P1655delFs

c.4963delG

1 paper

NM_006766.5

p.Q1647*

c.4939C>T

3 papers

NM_006766.5

p.P1651_P1659del0

c.4953_4976del24

1 paper

NM_006766.5

p.P1651_P1659del9

c.4951_4976del27

1 paper

NM_006766.5

p.Q1660delFs

c.4980delC

1 paper

NM_006766.5

p.P1661ins5

c.4982_4983ins15