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_182648.2

p.S905S

c.2715T>C

Surrounding Variants

2 papers

NM_013448.3

p.K940R

c.2819A>G

1 paper

NM_013448.3

p.A907A

c.2721T>C

1 paper

NM_013448.3

p.I905I

c.2715T>C

1 paper

NM_013448.3

p.R891L

c.2672G>T

1 paper

NM_013448.3

p.R891P

c.2672G>C

1 paper

NM_013448.3

p.P875P

c.2625A>C

1 paper

NM_013448.3

p.S867P

c.2599T>C

1 paper

NM_013448.3

p.S856F

c.2567C>T

1 paper

NM_013448.3

p.V855L

c.2563G>T

1 paper

NM_013448.3

p.V855L

c.2563G>C

1 paper

NM_013448.3

p.S843S

c.2529A>C

1 paper

NM_013448.3

p.L838L

c.2514G>A