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.K1330fs

c.3988_3989fs

Surrounding Variants

1 paper

NM_006766.5

p.K1330delFs

c.3989delT

1 paper

NM_006766.5

p.K1330delFs

c.3989_3990delCT

1 paper

NM_006766.5

p.L1324_E1325del2

c.3970_3974del6

1 paper

NM_006766.5

p.R1338W

c.4012A>T

5 papers

NM_006766.5

p.K1342fs

c.4024_4025fs

1 paper

NM_006766.5

p.K1342fs

c.4024_4025fs

4 papers

NM_006766.5

p.K1342delFs

c.4025delT

1 paper

NM_006766.5

p.D1317V

c.3950A>T

1 paper

NM_006766.5

p.E1343fs

c.4027_4028fs

1 paper

NM_006766.5

p.E1343delFs

c.4027delC

2 papers

NM_006766.5

p.E1344fs

c.4030_4031fs

1 paper

NM_006766.5

p.D1315N

c.3943G>A