Varaico: Literature-Extracted Genetic Variants

BAZ1A

127 papers

RefSeq Summary

The BAZ1A gene encodes the accessory subunit of the ATP-dependent chromatin assembly factor (ACF), a member of the ISWI ('imitation switch') family of chromatin remodeling complexes (summarized by Rac...

Pfam Domains

WAC_Acf1_DNA_bdaa 23–122UCSCATP-utilising chromatin assembly and remodelling N-terminal

DDTaa 423–484UCSCDDT domain

WHIM1aa 590–635UCSCWSTF, HB1, Itc1p, MBD9 motif 1

WSDaa 800–926UCSCWilliams-Beuren syndrome DDT (WSD), D-TOX E motif

PHDaa 1151–1195UCSCPHD-finger

Bromodomainaa 1438–1521UCSCBromodomain

Gene Aliases

HGNC Name

bromodomain adjacent to zinc finger domain 1A

HGNC Alias Symbols

hACF1; ACF1; WALp1; WCRF180

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_013448.3

p.K73*

c.217A>T

Surrounding Variants

1 paper

NM_013448.3

p.K73delFs

c.219delT

1 paper

NM_013448.3

p.V56A

c.167T>C

1 paper

NM_013448.3

p.T93P

c.277A>C

1 paper

NM_013448.3

p.S99L

c.296C>T

1 paper

NM_013448.3

p.R100G

c.298C>G

1 paper

NM_013448.3

p.R43Q

c.128G>A

1 paper

NM_013448.3

p.C105S

c.313T>A

1 paper

NM_013448.3

p.C105S

c.314G>C

1 paper

NM_013448.3

p.E120K

c.358G>A