Varaico: Literature-Extracted Genetic Variants

SMARCB1

964 papers

RefSeq Summary

The protein encoded by this gene is part of a complex that relieves repressive chromatin structures, allowing the transcriptional machinery to access its targets more effectively. The encoded nuclear ...

Pfam Domains

INI1_DNA-bdaa 13–104UCSCSWI/SNF Subunit INI1, DNA binding domain

SNF5aa 179–373UCSCSNF5 / SMARCB1 / INI1

Gene Aliases

HGNC Name

SWI/SNF related BAF chromatin remodeling complex subunit B1

HGNC Previous Symbol

SNF5L1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003073.5

p.Y47_P48insFs

c.139_142dup4

Surrounding Variants

1 paper

NM_003073.5

p.R46S

c.138A>C

1 paper

NM_003073.5

p.R46S

c.138A>T

1 paper

NM_003073.5

p.Y47_P48delFs

c.139_143del5

1 paper

NM_003073.5

p.Y47_V57del11

c.139_170del33

1 paper

NM_003073.5

p.Y47insFs

c.140dupA

1 paper

NM_003073.5

p.Y47delFs

c.140delA

1 paper

NM_003073.5

p.Y47fs

c.139_140fs

1 paper

NM_003073.5

p.P48insFs

c.144dupC

2 papers

NM_003073.5

p.Y47S

c.140A>C

1 paper

NM_003073.5

p.P48delFs

c.144delC

21 papers

NM_003073.5

p.Y47*

c.141C>A

19 papers

NM_003073.5

p.Y47*

c.141C>G