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

1–12 of 2280 variants

85 papers

NM_003073.5

p.R377H

c.1130G>A

56 papers

NM_003073.5

p.R374Q

c.1121G>A

47 papers

NM_003073.5

p.K364del1

c.1090_1091delAAG

46 papers

NM_003073.5

p.R40*

c.118C>T

38 papers

NM_003073.5

p.R158*

c.472C>T

35 papers

NM_003073.5

p.R201*

c.601C>T

27 papers

NM_003073.5

p.R53*

c.157C>T

26 papers

NM_003073.5

p.R377C

c.1129C>T

25 papers

NM_003073.5

p.A382delFs

c.1145delC

24 papers

NM_003073.5

p.R366C

c.1096C>T

21 papers

NM_003073.5

p.R37H

c.110G>A

21 papers

NM_003073.5

p.Y47*

c.141C>A