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.I195I

c.585C>T

Surrounding Variants

1 paper

NM_003073.5

p.D196insFs

c.586dupG

1 paper

NM_003073.5

p.D196delFs

c.586delG

1 paper

NM_003073.5

p.D196N

c.586G>A

1 paper

NM_003073.5

p.D196_D202insFs

c.587_606dup20

3 papers

NM_003073.5

p.D196fs

c.586_587fs

1 paper

NM_003073.5

p.I195T

c.584T>C

1 paper

NM_003073.5

p.D196_Q198insFs

c.586_592dup7

1 paper

NM_003073.5

p.D196_R201insFs

c.588_603dup16

1 paper

NM_003073.5

p.D196insFs

c.586_587ins17

2 papers

NM_003073.5

p.I195fs

c.583_584fs

2 papers

NM_003073.5

p.G197delFs

c.591delG

2 papers

NM_003073.5

p.E194G

c.581A>G