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.K94N

c.282A>T

Surrounding Variants

1 paper

NM_006766.5

p.Q95fs

c.283_284fs

1 paper

NM_006766.5

p.Q95fs

c.283_284fs

1 paper

NM_006766.5

p.N96fs

c.286_287fs

3 papers

NM_006766.5

p.Q95_N96delFs

c.283_286del4

1 paper

NM_006766.5

p.N96delFs

c.286_287delTT

1 paper

NM_006766.5

p.L102M

c.304C>A

1 paper

NM_006766.5

p.R86W

c.256C>T

1 paper

NM_006766.5

p.R105Q

c.314G>A

1 paper

NM_006766.5

p.R79Q

c.236G>A

9 papers

NM_006766.5

p.R79*

c.235C>T

1 paper

NM_006766.5

p.E112D

c.336G>T

2 papers

NM_006766.5

p.E112D

c.336G>C