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

3 papers

NM_003073.5

p.R127G

c.379A>G

Surrounding Variants

1 paper

NM_003073.5

p.R127fs

c.379_380fs

3 papers

NM_003073.5

p.R127W

c.379A>T

1 paper

NM_003073.5

p.R127fs

c.379_380fs

2 papers

NM_003073.5

p.K126N

c.378G>C

1 paper

NM_003073.5

p.K126_R127insFs

c.378_379ins4

3 papers

NM_003073.5

p.K126N

c.378G>T

1 paper

NM_003073.5

p.R127_T134del0

c.379_402del24

1 paper

NM_003073.5

p.R127S

c.381G>C

1 paper

NM_003073.5

p.R127S

c.381G>T

1 paper

NM_003073.5

p.K126_R127ins4

c.376_380ins12

1 paper

NM_003073.5

p.N128Y

c.382A>T

1 paper

NM_003073.5

p.K126fs

c.376_377fs