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.Q1283_R1284insT

c.3847_3851ins3

Surrounding Variants

1 paper

NM_006766.5

p.Q1283R

c.3848A>G

1 paper

NM_006766.5

p.E1282*

c.3844G>T

3 papers

NM_006766.5

p.R1284insFs

c.3850_3851dupAG

1 paper

NM_006766.5

p.E1281*

c.3841G>T

5 papers

NM_006766.5

p.Q1285fs

c.3853_3854fs

1 paper

NM_006766.5

p.Q1285fs

c.3853_3854fs

1 paper

NM_006766.5

p.E1287fs

c.3859_3860fs

1 paper

NM_006766.5

p.E1287fs

c.3859_3860fs

6 papers

NM_006766.5

p.R1278fs

c.3832_3833fs

1 paper

NM_006766.5

p.E1288K

c.3862G>A

2 papers

NM_006766.5

p.E1287delFs

c.3860_3861delCT

1 paper

NM_006766.5

p.R1278S

c.3832C>A