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.A1817T

c.5449G>A

Surrounding Variants

1 paper

NM_006766.5

p.P1812S

c.5434C>T

1 paper

NM_006766.5

p.M1810R

c.5429T>G

1 paper

NM_006766.5

p.A1808T

c.5422G>A

1 paper

NM_006766.5

p.Q1807P

c.5420A>C

2 papers

NM_006766.5

p.Q1807E

c.5419C>G

1 paper

NM_006766.5

p.Q1805E

c.5413C>G

1 paper

NM_006766.5

p.P1799A

c.5395C>G

4 papers

NM_006766.5

p.N1836fs

c.5506_5507fs

2 papers

NM_006766.5

p.N1836fs

c.5506_5507fs

5 papers

NM_006766.5

p.T1835_N1836delFs

c.5505_5508del4

1 paper

NM_006766.5

p.L1791V

c.5371C>G

1 paper

NM_006766.5

p.S1787C

c.5360C>G