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

2 papers

NM_013448.3

p.G611A

c.1832G>C

Surrounding Variants

1 paper

NM_013448.3

p.I640V

c.1918A>G

1 paper

NM_013448.3

p.K645M

c.1934A>T

1 paper

NM_013448.3

p.E662K

c.1984G>A

1 paper

NM_013448.3

p.R668L

c.2003G>T

1 paper

NM_013448.3

p.E677V

c.2030A>T

1 paper

NM_013448.3

p.I701V

c.2101A>G

1 paper

NM_013448.3

p.D607N

c.1819G>A

1 paper

NM_013448.3

p.N593S

c.1778A>G

1 paper

NM_013448.3

p.T582insFs

c.1745_1746ins32

1 paper

NM_182648.2

p.S509T

c.1526G>C

1 paper

NM_013448.3

p.Q535*

c.1603C>T

1 paper

NM_013448.3

p.S521A

c.1561T>G