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.I1121fs

c.3361_3362fs

Surrounding Variants

2 papers

NM_006766.5

p.L1122*

c.3365T>G

2 papers

NM_006766.5

p.L1122*

c.3365T>A

1 paper

NM_006766.5

p.P1120_L1122delFs

c.3360_3366del7

1 paper

NM_006766.5

p.D1118Splc

c.3353-1G>A

3 papers

NM_006766.5

p.S1126fs

c.3376_3377fs

3 papers

NM_006766.5

p.S1126delFs

c.3377delG

25 papers

NM_006766.5

p.R1129*

c.3385C>T

1 paper

NM_006766.5

p.R1129Q

c.3386G>A

4 papers

NM_006766.5

p.K1130fs

c.3388_3389fs

1 paper

NM_006766.5

p.K1130N

c.3390A>T

1 paper

NM_006766.5

p.K1130N

c.3390A>C

1 paper

NM_006766.5

p.K1130fs

c.3388_3389fs