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.I1720fs

c.5158_5159fs

Surrounding Variants

1 paper

NM_006766.5

p.E1722delFs

c.5165_5166delTT

3 papers

NM_006766.5

p.I1729L

c.5185A>T

3 papers

NM_006766.5

p.I1729L

c.5185A>C

2 papers

NM_006766.5

p.E1733*

c.5197G>T

1 paper

NM_006766.5

p.S1706T

c.5117G>C

4 papers

NM_006766.5

p.D1738N

c.5212G>A

1 paper

NM_006766.5

p.L1702P

c.5105T>C

1 paper

NM_006766.5

p.P1701S

c.5101C>T

1 paper

NM_006766.5

p.Q1699_P1700ins0

c.5097_5099dupGCC

1 paper

NM_006766.5

p.A1741A

c.5223C>T

1 paper

NM_006766.5

p.G1742D

c.5225G>A

2 papers

NM_006766.5

p.Q1697P

c.5090A>C