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.E1235*

c.3703G>T

Surrounding Variants

1 paper

NM_006766.5

p.E1234*

c.3700G>T

1 paper

NM_006766.5

p.A1236T

c.3706G>A

1 paper

NM_006766.5

p.E1238*

c.3712G>T

1 paper

NM_006766.5

p.E1240D

c.3720G>T

1 paper

NM_006766.5

p.E1240D

c.3720G>C

1 paper

NM_006766.5

p.E1241K

c.3721G>A

1 paper

NM_006766.5

p.M1229ins1

c.3685_3686insGAA

2 papers

NM_006766.5

p.E1241fs

c.3721_3722fs

1 paper

NM_006766.5

p.E1241delFs

c.3721delC

1 paper

NM_006766.5

p.E1242K

c.3724G>A

1 paper

NM_006766.5

p.K1224del1

c.3670_3672delCTT

1 paper

NM_006766.5

p.A1245G

c.3734C>G