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.E1361G

c.4082A>G

Surrounding Variants

2 papers

NM_006766.5

p.D1365fs

c.4093_4094fs

2 papers

NM_006766.5

p.I1363_K1364insFs

c.4089_4092dup4

4 papers

NM_006766.5

p.Q1357*

c.4069C>T

1 paper

NM_006766.5

p.E1367fs

c.4099_4100fs

1 paper

NM_006766.5

p.E1367delFs

c.4100_4101delCT

1 paper

NM_006766.5

p.A1354V

c.4061C>T

1 paper

NM_006766.5

p.A1354T

c.4060G>A

1 paper

NM_006766.5

p.D1353V

c.4058A>T

1 paper

NM_006766.5

p.D1353G

c.4058A>G

10 papers

NM_006766.5

p.E1370*

c.4108G>T

3 papers

NM_006766.5

p.L1352delFs

c.4054_4055delAA

1 paper

NM_006766.5

p.L1352fs

c.4054_4055fs