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.D1317V

c.3950A>T

Surrounding Variants

1 paper

NM_006766.5

p.D1315N

c.3943G>A

2 papers

NM_006766.5

p.D1313G

c.3938A>G

5 papers

NM_006766.5

p.D1313N

c.3937G>A

1 paper

NM_006766.5

p.D1312D

c.3936C>T

1 paper

NM_006766.5

p.L1324_E1325del2

c.3970_3974del6

1 paper

NM_006766.5

p.E1307_T1308delFs

c.3921_3922delTC

3 papers

NM_006766.5

p.T1308_A1309ins5

c.3922_3926ins15

2 papers

NM_006766.5

p.K1330fs

c.3988_3989fs

1 paper

NM_006766.5

p.A1304delFs

c.3910delC

1 paper

NM_006766.5

p.K1330delFs

c.3989delT

1 paper

NM_006766.5

p.A1304fs

c.3910_3911fs

1 paper

NM_006766.5

p.K1330delFs

c.3989_3990delCT