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

2 papers

NM_006766.5

p.Q1871*

c.5611C>T

Surrounding Variants

4 papers

NM_006766.5

p.Q1873*

c.5617C>T

1 paper

NM_006766.5

p.A1867V

c.5600C>T

1 paper

NM_006766.5

p.S1866C

c.5597C>G

1 paper

NM_006766.5

p.G1876S

c.5626G>A

2 papers

NM_006766.5

p.R1877C

c.5629C>T

2 papers

NM_006766.5

p.R1877H

c.5630G>A

1 paper

NM_006766.5

p.A1862V

c.5585C>T

1 paper

NM_006766.5

p.S1880L

c.5639C>T

3 papers

NM_006766.5

p.S1880*

c.5639C>A

2 papers

NM_006766.5

p.V1882fs

c.5644_5645fs

1 paper

NM_006766.5

p.V1882delFs

c.5646delA

2 papers

NM_006766.5

p.V1882delFs

c.5645_5646delAA