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.Q1995H

c.5985G>T

Surrounding Variants

1 paper

NM_006766.5

p.Q1995H

c.5985G>C

3 papers

NM_006766.5

p.Q1995*

c.5983C>T

1 paper

NM_006766.5

p.N1998N

c.5994C>T

1 paper

NM_006766.5

p.M1987I

c.5961G>T

1 paper

NM_006766.5

p.M1987I

c.5961G>C

1 paper

NM_006766.5

p.M1987I

c.5961G>A

1 paper

NM_006766.5

p.M1987R

c.5960T>G

1 paper

NM_006766.5

p.H1983N

c.5947C>A

1 paper

NM_006766.5

p.P1981insFs

c.5943dupC

1 paper

NM_006766.5

p.S1982fs

c.5944_5945fs

1 paper

NM_006766.5

p.P1981T

c.5941C>A

1 paper

NM_006766.5

p.G1980C

c.5938G>T