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.P1277fs

c.3829_3830fs

Surrounding Variants

1 paper

NM_006766.5

p.P1277L

c.3830C>T

3 papers

NM_006766.5

p.P1277insFs

c.3830_3831insTT

2 papers

NM_006766.5

p.P1277_R1278insFs

c.3831_3832insAG

6 papers

NM_006766.5

p.R1278fs

c.3832_3833fs

1 paper

NM_006766.5

p.R1278S

c.3832C>A

1 paper

NM_006766.5

p.E1273del1

c.3817_3818delTTC

3 papers

NM_006766.5

p.E1274*

c.3820G>T

1 paper

NM_006766.5

p.E1272_E1273del1

c.3816_3818delTCC

1 paper

NM_006766.5

p.E1281*

c.3841G>T

1 paper

NM_006766.5

p.E1282*

c.3844G>T

1 paper

NM_006766.5

p.E1272*

c.3814G>T

1 paper

NM_006766.5

p.E1271D

c.3813G>T