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.E1515V

c.4544A>T

Surrounding Variants

1 paper

NM_013448.3

p.T1513K

c.4538C>A

1 paper

NM_013448.3

p.N1509Y

c.4525A>T

1 paper

NM_013448.3

p.T1538P

c.4612A>C

1 paper

NM_013448.3

p.S1492F

c.4475C>T

1 paper

NM_013448.3

p.S1492T

c.4474T>A

1 paper

NM_013448.3

p.R1555Q

c.4664G>A

1 paper

NM_013448.3

p.I1556delFs

c.4666delT

1 paper

NM_013448.3

p.I1556fs

c.4666_4667fs

1 paper

NM_013448.3

p.S1492T

c.4474T>A

2 papers

NM_013448.3

p.R1480C

c.4438C>T

1 paper

NM_013448.3

p.R1480S

c.4438C>A

1 paper

NM_013448.3

p.Y1467C

c.4400A>G