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.M156I

c.468G>C

Surrounding Variants

1 paper

NM_003073.5

p.M156I

c.468G>A

1 paper

NM_003073.5

p.M156I

c.468G>T

6 papers

NM_003073.5

p.G157S

c.469G>A

1 paper

NM_003073.5

p.G157D

c.470G>A

2 papers

NM_003073.5

p.G157V

c.470G>T

1 paper

NM_003073.5

p.R158G

c.472C>G

38 papers

NM_003073.5

p.R158*

c.472C>T

4 papers

NM_003073.5

p.R155H

c.464G>A

1 paper

NM_003073.5

p.R155L

c.464G>T

1 paper

NM_003073.5

p.R155delins

c.464_465delinsTT

1 paper

NM_003073.5

p.R155C

c.463C>T

3 papers

NM_003073.5

p.R158Q

c.473G>A