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

2 papers

NM_003073.5

p.Q130*

c.388C>T

Surrounding Variants

1 paper

NM_003073.5

p.S129S

c.387C>T

2 papers

NM_003073.5

p.S129N

c.386G>A

1 paper

NM_003073.5

p.S129I

c.386G>T

1 paper

NM_003073.5

p.S129fs

c.385_386fs

1 paper

NM_003073.5

p.N128K

c.384C>G

3 papers

NM_003073.5

p.W131*

c.392G>A

1 paper

NM_003073.5

p.S129_P133delFs

c.385_398del14

3 papers

NM_003073.5

p.W131*

c.393G>A

1 paper

NM_003073.5

p.N128Y

c.382A>T

1 paper

NM_003073.5

p.R127S

c.381G>C

1 paper

NM_003073.5

p.R127S

c.381G>T

1 paper

NM_003073.5

p.R127fs

c.379_380fs