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.P334H

c.1001C>A

Surrounding Variants

1 paper

NM_003073.5

p.P334R

c.1001C>G

1 paper

NM_003073.5

p.P334L

c.1001C>T

2 papers

NM_003073.5

p.P334T

c.1000C>A

1 paper

NM_003073.5

p.P334P

c.1002C>A

2 papers

NM_003073.5

p.P334insFs

c.1000_1001insG

1 paper

NM_003073.5

p.T335Fs

c.1003delinsGAFs

1 paper

NM_003073.5

p.P334A

c.1000C>G

1 paper

NM_003073.5

p.P334P

c.1002C>G

1 paper

NM_003073.5

p.P334S

c.1000C>T

1 paper

NM_003073.5

p.P334P

c.1002C>T

2 papers

NM_003073.5

p.P334fs

c.1000_1001fs

1 paper

NM_003073.5

p.T335fs

c.1003_1004fs