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.D1034D

c.3102C>T

Surrounding Variants

1 paper

NM_013448.3

p.D1034_V1035del2

c.3100_3104del6

1 paper

NM_013448.3

p.K1045*

c.3133A>T

1 paper

NM_013448.3

p.T1044_K1045del2

c.3130_3134del6

1 paper

NM_013448.3

p.E1039_V1046del8

c.3115_3137del24

1 paper

NM_013448.3

p.V1035_V1046del12

c.3103_3137del36

1 paper

NM_013448.3

p.A963T

c.2887G>A

1 paper

NM_013448.3

p.L1052P

c.3155T>C

1 paper

NM_013448.3

p.P1060fs

c.3178_3179fs

2 papers

NM_182648.2

p.V1044M

c.3130G>A

NM_013448.3

p.V1076M

c.3226G>A

1 paper

NM_182648.2

p.A1051V

c.3152C>T

1 paper

NM_013448.3

p.G1090S

c.3268G>A

2 papers

NM_013448.3

p.R1093Q

c.3278G>A