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.F10F

c.30C>T

Surrounding Variants

8 papers

NM_003073.5

p.G11R

c.31G>A

8 papers

NM_003073.5

p.G11R

c.31G>C

5 papers

NM_003073.5

p.F10delFs

c.30delC

2 papers

NM_003073.5

p.F10fs

c.28_29fs

1 paper

NM_003073.5

p.T9T

c.27C>T

1 paper

NM_003073.5

p.F10_Q12del3

c.28_35del9

2 papers

NM_003073.5

p.G11G

c.33G>C

1 paper

NM_003073.5

p.T9N

c.26C>A

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.T9S

c.26C>G

1 paper

NM_003073.5

p.Q12E

c.34C>G