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.K1174N

c.3522G>T

Surrounding Variants

4 papers

NM_006766.5

p.G1172delFs

c.3515delC

3 papers

NM_006766.5

p.G1172fs

c.3514_3515fs

1 paper

NM_006766.5

p.R1169Q

c.3506G>A

1 paper

NM_006766.5

p.M1180K

c.3539T>A

2 papers

NM_006766.5

p.R1169*

c.3505C>T

1 paper

NM_006766.5

p.R1166delFs

c.3496delT

1 paper

NM_006766.5

p.T1184_Q1185insFs

c.3552_3553insC

1 paper

NM_006766.5

p.Q1185*

c.3553C>T

1 paper

NM_006766.5

p.Q1185E

c.3553C>G

1 paper

NM_006766.5

p.Q1185_A1186insFs

c.3555_3556insA

1 paper

NM_006766.5

p.A1186T

c.3556G>A

1 paper

NM_006766.5

p.A1186fs

c.3556_3557fs