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.K1203R

c.3608A>G

Surrounding Variants

1 paper

NM_006766.5

p.Q1205*

c.3613C>T

1 paper

NM_006766.5

p.K1201*

c.3601A>T

1 paper

NM_006766.5

p.E1206G

c.3617A>G

1 paper

NM_006766.5

p.R1200C

c.3598C>T

2 papers

NM_006766.5

p.G1199delFs

c.3596delC

3 papers

NM_006766.5

p.G1199fs

c.3595_3596fs

1 paper

NM_006766.5

p.E1208G

c.3623A>G

2 papers

NM_006766.5

p.P1196L

c.3587C>T

5 papers

NM_006766.5

p.V1211delFs

c.3631_3632delAC

1 paper

NM_006766.5

p.P1213R

c.3638C>G

7 papers

NM_006766.5

p.K1214*

c.3640A>T

1 paper

NM_006766.5

p.C1187*

c.3561C>A