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

2 papers

NM_006766.5

p.Q1454fs

c.4360_4361fs

Surrounding Variants

2 papers

NM_006766.5

p.Q1454insFs

c.4361_4362insT

2 papers

NM_006766.5

p.Q1454insFs

c.4361dupA

4 papers

NM_006766.5

p.T1455fs

c.4363_4364fs

1 paper

NM_006766.5

p.Q1454insFs

c.4362dupG

1 paper

NM_006766.5

p.A1452V

c.4355C>T

2 papers

NM_006766.5

p.A1451V

c.4352C>T

1 paper

NM_006766.5

p.S1458fs

c.4372_4373fs

1 paper

NM_006766.5

p.L1450F

c.4348C>T

1 paper

NM_006766.5

p.S1458N

c.4373G>A

1 paper

NM_006766.5

p.S1458delFs

c.4372_4373delCT

1 paper

NM_006766.5

p.E1448*

c.4342G>T

4 papers

NM_006766.5

p.Q1461*

c.4381C>T