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.G41R

c.121G>C

Surrounding Variants

2 papers

NM_003073.5

p.G41C

c.121G>T

2 papers

NM_003073.5

p.G41insFs

c.122dupG

1 paper

NM_003073.5

p.S42delFs

c.124delT

7 papers

NM_003073.5

p.R40Q

c.119G>A

1 paper

NM_003073.5

p.R40fs

c.118_119fs

1 paper

NM_003073.5

p.R40G

c.118C>G

46 papers

NM_003073.5

p.R40*

c.118C>T

2 papers

NM_003073.5

p.R40fs

c.118_119fs

1 paper

NM_003073.5

p.S42fs

c.124_125fs

1 paper

NM_003073.5

p.F39L

c.117C>A

1 paper

NM_003073.5

p.F39L

c.117C>G

4 papers

NM_003073.5

p.F39F

c.117C>T