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

1–12 of 159 variants

2 papers

NM_013448.3

p.G611A

c.1832G>C

2 papers

NM_013448.3

p.K940R

c.2819A>G

2 papers

NM_013448.3

p.D1034D

c.3102C>T

2 papers

NM_013448.3

p.R1093Q

c.3278G>A

2 papers

NM_013448.3

p.N1366K

c.4098T>G

2 papers

NM_013448.3

p.N1366K

c.4098T>A

2 papers

NM_013448.3

p.R1480C

c.4438C>T

1 paper

NM_013448.3

p.L3L

c.9G>A

1 paper

NM_013448.3

p.F9I

c.25T>A

1 paper

NM_013448.3

p.R43Q

c.128G>A

1 paper

NM_013448.3

p.V56A

c.167T>C

1 paper

NM_013448.3

p.K73*

c.217A>T