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.P74T

c.220C>A

Surrounding Variants

1 paper

NM_006766.5

p.P74A

c.220C>G

1 paper

NM_006766.5

p.D73D

c.219T>C

1 paper

NM_006766.5

p.Y71S

c.212A>C

9 papers

NM_006766.5

p.R79*

c.235C>T

1 paper

NM_006766.5

p.N69Y

c.205A>T

1 paper

NM_006766.5

p.R79Q

c.236G>A

1 paper

NM_006766.5

p.K66_G67delins

c.198_199delinsGT

3 papers

NM_006766.5

p.N65_K66delFs

c.195_198del4

1 paper

NM_006766.5

p.N65_K66del2

c.193_197del6

1 paper

NM_006766.5

p.N65fs

c.193_194fs

4 papers

NM_006766.5

p.N65fs

c.193_194fs

1 paper

NM_006766.5

p.R86W

c.256C>T