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.E330_N331del2

c.988_992del6

Surrounding Variants

2 papers

NM_003073.5

p.S329Splc

c.987-1G>A

1 paper

NM_003073.5

p.S329Splc

c.987-1G>C

1 paper

NM_003073.5

p.S329Splc

c.987-1G>T

2 papers

NM_003073.5

p.S329Splc

c.987-2A>C

1 paper

NM_003073.5

p.S329Splc

c.987-2A>G

2 papers

NM_003073.5

p.S329Splc

c.987-2A>T

1 paper

NM_003073.5

p.S329R

c.987C>A

2 papers

NM_003073.5

p.S329R

c.987C>G

1 paper

NM_003073.5

p.S329S

c.987C>T

2 papers

NM_003073.5

p.E330K

c.988G>A

1 paper

NM_003073.5

p.E330Q

c.988G>C

4 papers

NM_003073.5

p.E330*

c.988G>T