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

3 papers

NM_006766.5

p.P1145delFs

c.3434delG

Surrounding Variants

1 paper

NM_006766.5

p.L1146_K1147insG

c.3436_3440ins3

5 papers

NM_006766.5

p.P1145fs

c.3433_3434fs

1 paper

NM_006766.5

p.S1143insFs

c.3427_3428insTA

1 paper

NM_006766.5

p.S1143insFs

c.3428_3429insTA

1 paper

NM_006766.5

p.S1143fs

c.3427_3428fs

1 paper

NM_006766.5

p.K1148delFs

c.3443delT

1 paper

NM_006766.5

p.T1142fs

c.3424_3425fs

1 paper

NM_006766.5

p.K1150fs

c.3448_3449fs

1 paper

NM_006766.5

p.D1141V

c.3422A>T

2 papers

NM_006766.5

p.K1150insFs

c.3449dupA

2 papers

NM_006766.5

p.K1150delFs

c.3448_3449delTT

2 papers

NM_006766.5

p.E1139fs

c.3415_3416fs