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.E1641K

c.4921G>A

Surrounding Variants

3 papers

NM_006766.5

p.V1639_V1640del2

c.4915_4919del6

1 paper

NM_006766.5

p.C1638C

c.4914C>T

1 paper

NM_006766.5

p.K1633_Q1636delFs

c.4898_4908del11

1 paper

NM_006766.5

p.S1637C

c.4909A>T

1 paper

NM_006766.5

p.Q1647*

c.4939C>T

1 paper

NM_006766.5

p.Q1647H

c.4941G>T

1 paper

NM_006766.5

p.Q1647H

c.4941G>C

1 paper

NM_006766.5

p.Q1648P

c.4943A>C

1 paper

NM_006766.5

p.Q1649*

c.4945C>T

7 papers

NM_006766.5

p.P1651L

c.4952C>T

1 paper

NM_006766.5

p.P1653S

c.4957C>T

1 paper

NM_006766.5

p.A1628T

c.4882G>A