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

10 papers

NM_006766.5

p.L134S

c.401T>C

Surrounding Variants

1 paper

NM_006766.5

p.F135C

c.404T>G

1 paper

NM_006766.5

p.A139P

c.415G>C

1 paper

NM_006766.5

p.A140V

c.419C>T

1 paper

NM_006766.5

p.Q128E

c.382C>G

1 paper

NM_006766.5

p.F124C

c.371T>G

1 paper

NM_006766.5

p.F143_H144del1

c.429_431delTGA

1 paper

NM_006766.5

p.F143_H144del2

c.427_431del6

2 papers

NM_006766.5

p.R123H

c.368G>A

2 papers

NM_006766.5

p.R123C

c.367C>T

1 paper

NM_006766.5

p.L147_R148ins10

c.439_443ins30

1 paper

NM_006766.5

p.R148*

c.442C>T

1 paper

NM_006766.5

p.A150S

c.448G>T