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.P1137L

c.3410C>T

Surrounding Variants

1 paper

NM_006766.5

p.P1137delFs

c.3411delA

1 paper

NM_006766.5

p.L1138P

c.3413T>C

1 paper

NM_006766.5

p.L1138delFs

c.3412delG

1 paper

NM_006766.5

p.L1138fs

c.3412_3413fs

1 paper

NM_006766.5

p.E1139Q

c.3415G>C

2 papers

NM_006766.5

p.E1139fs

c.3415_3416fs

1 paper

NM_006766.5

p.K1134insFs

c.3400dupA

5 papers

NM_006766.5

p.V1133_K1134insFs

c.3399_3400dupGA

6 papers

NM_006766.5

p.K1134fs

c.3400_3401fs

1 paper

NM_006766.5

p.D1141V

c.3422A>T

1 paper

NM_006766.5

p.T1142fs

c.3424_3425fs

1 paper

NM_006766.5

p.S1143fs

c.3427_3428fs