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

27 papers

NM_003073.5

p.R53*

c.157C>T

Surrounding Variants

1 paper

NM_003073.5

p.R53fs

c.157_158fs

1 paper

NM_003073.5

p.R53G

c.157C>G

3 papers

NM_003073.5

p.R53fs

c.157_158fs

3 papers

NM_003073.5

p.R53Q

c.158G>A

1 paper

NM_003073.5

p.R52S

c.156G>C

1 paper

NM_003073.5

p.R53P

c.158G>C

9 papers

NM_003073.5

p.R53L

c.158G>T

1 paper

NM_003073.5

p.R53delFs

c.157delC

1 paper

NM_003073.5

p.R52K

c.155G>A

2 papers

NM_003073.5

p.R52R

c.154A>C

3 papers

NM_003073.5

p.R52G

c.154A>G

9 papers

NM_003073.5

p.W51*

c.153G>A