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.L1903V

c.5707C>G

Surrounding Variants

1 paper

NM_006766.5

p.P1905H

c.5714C>A

1 paper

NM_006766.5

p.T1906A

c.5716A>G

3 papers

NM_006766.5

p.A1908T

c.5722G>A

1 paper

NM_006766.5

p.R1895H

c.5684G>A

1 paper

NM_006766.5

p.R1895C

c.5683C>T

1 paper

NM_006766.5

p.N1912S

c.5735A>G

1 paper

NM_006766.5

p.M1914V

c.5740A>G

1 paper

NM_006766.5

p.L1891L

c.5671C>T

1 paper

NM_006766.5

p.A1890S

c.5668G>T

2 papers

NM_006766.5

p.R1889H

c.5666G>A

2 papers

NM_006766.5

p.R1889C

c.5665C>T

1 paper

NM_006766.5

p.A1886T

c.5656G>A