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.G11G

c.33G>C

Surrounding Variants

1 paper

NM_003073.5

p.Q12K

c.34C>A

1 paper

NM_003073.5

p.Q12_K13insATG

c.34_38ins9

1 paper

NM_003073.5

p.Q12E

c.34C>G

11 papers

NM_003073.5

p.Q12*

c.34C>T

2 papers

NM_003073.5

p.Q12delFs

c.35_36delAG

8 papers

NM_003073.5

p.G11R

c.31G>A

8 papers

NM_003073.5

p.G11R

c.31G>C

1 paper

NM_003073.5

p.F10F

c.30C>T

1 paper

NM_003073.5

p.Q12Q

c.36G>A

1 paper

NM_003073.5

p.K13insFs

c.37_38insA

6 papers

NM_003073.5

p.K13delFs

c.38delA

1 paper

NM_003073.5

p.K13fs

c.37_38fs