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.R366R

c.1098C>T

Surrounding Variants

1 paper

NM_003073.5

p.R366R

c.1098C>A

1 paper

NM_003073.5

p.R366R

c.1098C>G

3 papers

NM_003073.5

p.R366H

c.1097G>A

2 papers

NM_003073.5

p.D367N

c.1099G>A

3 papers

NM_003073.5

p.R366P

c.1097G>C

3 papers

NM_003073.5

p.D367H

c.1099G>C

2 papers

NM_003073.5

p.D367Y

c.1099G>T

1 paper

NM_003073.5

p.R366L

c.1097G>T

1 paper

NM_003073.5

p.D367delFs

c.1100delA

1 paper

NM_003073.5

p.D367A

c.1100A>C

2 papers

NM_003073.5

p.D367G

c.1100A>G

1 paper

NM_003073.5

p.D367V

c.1100A>T