Varaico: Literature-Extracted Genetic Variants

KAT5

246 papers

RefSeq Summary

The protein encoded by this gene belongs to the MYST family of histone acetyl transferases (HATs) and was originally isolated as an HIV-1 TAT-interactive protein. HATs play important roles in regulati...

Pfam Domains

Tudor-knotaa 7–65UCSCRNA binding activity-knot of a chromodomain

zf-MYSTaa 229–283UCSCMYST family zinc finger domain

MOZ_SASaa 288–471UCSCMOZ/SAS family

Gene Aliases

HGNC Name

lysine acetyltransferase 5

HGNC Alias Symbols

TIP60; PLIP; cPLA2; HTATIP1; ESA1; ZC2HC5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_182710.3

p.E336*

c.1006G>T

Surrounding Variants

1 paper

NM_182710.3

p.S333F

c.998C>T

1 paper

NM_182710.3

p.T331A

c.991A>G

1 paper

NM_182710.3

p.K341N

c.1023G>C

1 paper

NM_182710.3

p.K341N

c.1023G>T

1 paper

NM_182710.3

p.Y327F

c.980A>T

1 paper

NM_182710.3

p.E325K

c.973G>A

1 paper

NM_182710.3

p.N324Y

c.970A>T

1 paper

NM_182710.3

p.P322R

c.965C>G

1 paper

NM_182710.3

p.L313_T314Splc

c.940-1G>A

2 papers

NM_182710.3

p.R311C

c.931C>T

1 paper

NM_182710.3

p.C308C

c.924T>C

1 paper

NM_182710.3

p.L306_R311delins

c.916_931delinsGGAGCTTGGGCATCAA