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.D1068N

c.3202G>A

Surrounding Variants

1 paper

NM_006766.5

p.D1068Y

c.3202G>T

1 paper

NM_006766.5

p.I1067I

c.3201C>T

1 paper

NM_006766.5

p.E1066K

c.3196G>A

1 paper

NM_006766.5

p.E1071Q

c.3211G>C

1 paper

NM_006766.5

p.E1071K

c.3211G>A

2 papers

NM_006766.5

p.E1071A

c.3212A>C

2 papers

NM_006766.5

p.P1063S

c.3187C>T

1 paper

NM_006766.5

p.E1073ins1

c.3218_3219insGGA

6 papers

NM_006766.5

p.L1061*

c.3182T>G

6 papers

NM_006766.5

p.L1061*

c.3182T>A

1 paper

NM_006766.5

p.E1076K

c.3226G>A

7 papers

NM_006766.5

p.N1077fs

c.3229_3230fs