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

2 papers

NM_003073.5

p.L36P

c.107T>C

Surrounding Variants

1 paper

NM_003073.5

p.L36fs

c.106_107fs

2 papers

NM_003073.5

p.L36L

c.108C>G

1 paper

NM_003073.5

p.L36L

c.108C>T

1 paper

NM_003073.5

p.Y35*

c.105C>A

1 paper

NM_003073.5

p.R37insFs

c.110dupG

1 paper

NM_003073.5

p.R37fs

c.109_110fs

1 paper

NM_003073.5

p.Y35*

c.105C>G

1 paper

NM_003073.5

p.R37C

c.109C>T

1 paper

NM_003073.5

p.L36_R37del2

c.106_110del6

1 paper

NM_003073.5

p.R37_L43delFs

c.109_127del19

2 papers

NM_003073.5

p.R37delFs

c.110delG

3 papers

NM_003073.5

p.R37fs

c.109_110fs