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.L43V

c.127C>G

Surrounding Variants

2 papers

NM_003073.5

p.L43L

c.127C>T

1 paper

NM_003073.5

p.L43R

c.128T>G

1 paper

NM_003073.5

p.L43_Y44insFs

c.128_132dup5

1 paper

NM_003073.5

p.S42_L43insFs

c.126_127ins4

1 paper

NM_003073.5

p.Y44H

c.130T>C

1 paper

NM_003073.5

p.S42fs

c.124_125fs

1 paper

NM_003073.5

p.Y44F

c.131A>T

3 papers

NM_003073.5

p.Y44*

c.132C>A

3 papers

NM_003073.5

p.Y44*

c.132C>G

1 paper

NM_003073.5

p.S42delFs

c.124delT

1 paper

NM_003073.5

p.K45E

c.133A>G

1 paper

NM_003073.5

p.K45fs

c.133_134fs