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

2 papers

NM_006766.5

p.G1346delFs

c.4038delA

Surrounding Variants

2 papers

NM_006766.5

p.V1347fs

c.4039_4040fs

4 papers

NM_006766.5

p.Q1348*

c.4042C>T

3 papers

NM_006766.5

p.Q1348fs

c.4042_4043fs

1 paper

NM_006766.5

p.Q1348delFs

c.4043_4044delTT

1 paper

NM_006766.5

p.P1345A

c.4033C>G

2 papers

NM_006766.5

p.E1344delFs

c.4031_4032delCT

2 papers

NM_006766.5

p.E1344fs

c.4030_4031fs

1 paper

NM_006766.5

p.E1343delFs

c.4027delC

1 paper

NM_006766.5

p.E1343fs

c.4027_4028fs

1 paper

NM_006766.5

p.K1342fs

c.4024_4025fs

4 papers

NM_006766.5

p.K1342delFs

c.4025delT

5 papers

NM_006766.5

p.K1342fs

c.4024_4025fs