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.L1791V

c.5371C>G

Surrounding Variants

1 paper

NM_006766.5

p.S1787C

c.5360C>G

1 paper

NM_006766.5

p.P1799A

c.5395C>G

1 paper

NM_006766.5

p.Y1780F

c.5339A>T

1 paper

NM_006766.5

p.Y1780C

c.5339A>G

1 paper

NM_006766.5

p.Q1805E

c.5413C>G

1 paper

NM_006766.5

p.P1775L

c.5324C>T

2 papers

NM_006766.5

p.Q1807E

c.5419C>G

1 paper

NM_006766.5

p.Q1807P

c.5420A>C

1 paper

NM_006766.5

p.A1808T

c.5422G>A

2 papers

NM_006766.5

p.S1772fs

c.5314_5315fs

1 paper

NM_006766.5

p.S1772insFs

c.5314dupA

1 paper

NM_006766.5

p.M1810R

c.5429T>G