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.D1256E

c.3768C>A

Surrounding Variants

1 paper

NM_006766.5

p.D1256E

c.3768C>G

1 paper

NM_006766.5

p.D1256_S1257delFs

c.3768_3769delTG

1 paper

NM_006766.5

p.P1254L

c.3761C>T

1 paper

NM_006766.5

p.A1252delFs

c.3756delG

1 paper

NM_006766.5

p.S1253fs

c.3757_3758fs

3 papers

NM_006766.5

p.P1261fs

c.3781_3782fs

2 papers

NM_006766.5

p.S1260delFs

c.3780delA

2 papers

NM_006766.5

p.P1261delFs

c.3782delG

1 paper

NM_006766.5

p.A1245G

c.3734C>G

1 paper

NM_006766.5

p.E1269D

c.3807G>T

1 paper

NM_006766.5

p.E1269D

c.3807G>C

1 paper

NM_006766.5

p.V1270M

c.3808G>A