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.D1381fs

c.4141_4142fs

Surrounding Variants

1 paper

NM_006766.5

p.H1380_D1381insFs

c.4140_4141insA

1 paper

NM_006766.5

p.H1380L

c.4139A>T

3 papers

NM_006766.5

p.T1382fs

c.4144_4145fs

2 papers

NM_006766.5

p.T1382insFs

c.4144dupA

1 paper

NM_006766.5

p.S1383F

c.4148C>T

1 paper

NM_006766.5

p.V1385L

c.4153G>T

1 paper

NM_006766.5

p.V1385L

c.4153G>C

1 paper

NM_006766.5

p.E1374*

c.4120G>T

1 paper

NM_006766.5

p.M1389L

c.4165A>T

1 paper

NM_006766.5

p.M1389L

c.4165A>C

1 paper

NM_006766.5

p.K1364_L1371del8

c.4090_4112del24

10 papers

NM_006766.5

p.E1370*

c.4108G>T