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

12 papers

NM_006766.5

p.S1113*

c.3338C>G

Surrounding Variants

12 papers

NM_006766.5

p.S1113*

c.3338C>A

3 papers

NM_006766.5

p.E1109_D1110del2

c.3325_3329del6

1 paper

NM_006766.5

p.D1114G

c.3341A>G

2 papers

NM_006766.5

p.A1116fs

c.3346_3347fs

5 papers

NM_006766.5

p.E1109_D1110del1

c.3327_3329delTCT

1 paper

NM_006766.5

p.A1116fs

c.3346_3347fs

2 papers

NM_006766.5

p.D1117insFs

c.3349_3350insCA

2 papers

NM_006766.5

p.D1117fs

c.3349_3350fs

1 paper

NM_006766.5

p.D1118Splc

c.3352+1G>C

1 paper

NM_006766.5

p.S1104_K1105insTAA

c.3310_3314ins9

1 paper

NM_006766.5

p.R1102K

c.3305G>A

2 papers

NM_006766.5

p.Q1097R

c.3290A>G