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.T1274delFs

c.3821delG

Surrounding Variants

1 paper

NM_013448.3

p.T1274fs

c.3820_3821fs

1 paper

NM_013448.3

p.R1263L

c.3788G>T

1 paper

NM_013448.3

p.I1318V

c.3952A>G

1 paper

NM_013448.3

p.R1330R

c.3990A>G

1 paper

NM_013448.3

p.F1348C

c.4043T>G

1 paper

NM_013448.3

p.R1358L

c.4073G>T

1 paper

NM_013448.3

p.K1362K

c.4086A>G

2 papers

NM_013448.3

p.N1366K

c.4098T>G

2 papers

NM_013448.3

p.N1366K

c.4098T>A

1 paper

NM_013448.3

p.P1368insFs

c.4103_4104insGC

1 paper

NM_182648.2

p.I1348S

c.4043T>G

1 paper

NM_013448.3

p.C1408Y

c.4223G>A