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.Y1744C

c.5231A>G

Surrounding Variants

1 paper

NM_006766.5

p.Q1746E

c.5236C>G

1 paper

NM_006766.5

p.G1742D

c.5225G>A

1 paper

NM_006766.5

p.A1741A

c.5223C>T

4 papers

NM_006766.5

p.D1738N

c.5212G>A

1 paper

NM_006766.5

p.S1752S

c.5256C>T

2 papers

NM_006766.5

p.T1750_L1753delFs

c.5248_5257del10

2 papers

NM_006766.5

p.E1733*

c.5197G>T

3 papers

NM_006766.5

p.I1729L

c.5185A>T

3 papers

NM_006766.5

p.I1729L

c.5185A>C

1 paper

NM_006766.5

p.N1761T

c.5282A>C

1 paper

NM_006766.5

p.D1765V

c.5294A>T

1 paper

NM_006766.5

p.E1722delFs

c.5165_5166delTT