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

3 papers

NM_003073.5

p.W131*

c.392G>A

Surrounding Variants

3 papers

NM_003073.5

p.W131*

c.393G>A

2 papers

NM_003073.5

p.Q130*

c.388C>T

2 papers

NM_003073.5

p.P133T

c.397C>A

1 paper

NM_003073.5

p.S129S

c.387C>T

2 papers

NM_003073.5

p.P133L

c.398C>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.P133P

c.399C>A

1 paper

NM_003073.5

p.N128K

c.384C>G

1 paper

NM_003073.5

p.S129_P133delFs

c.385_398del14

1 paper

NM_003073.5

p.T134_L135del1

c.402_404delCCT