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.P1683L

c.5048C>T

Surrounding Variants

2 papers

NM_006766.5

p.Q1682P

c.5045A>C

2 papers

NM_006766.5

p.Q1680_Q1684del0

c.5040_5051del12

1 paper

NM_006766.5

p.P1679L

c.5036C>T

1 paper

NM_006766.5

p.Q1677ins1

c.5030_5031insACC

1 paper

NM_006766.5

p.Q1677*

c.5029C>T

1 paper

NM_006766.5

p.Q1676fs

c.5026_5027fs

1 paper

NM_006766.5

p.P1675insFs

c.5024_5025insA

1 paper

NM_006766.5

p.P1675H

c.5024C>A

1 paper

NM_006766.5

p.P1693P

c.5079A>C

1 paper

NM_006766.5

p.P1695P

c.5085T>C

1 paper

NM_006766.5

p.P1694delFs

c.5080delG

1 paper

NM_006766.5

p.P1670P

c.5010A>C