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.K16_L19delFs

c.47_57del11

Surrounding Variants

1 paper

NM_003073.5

p.K16Q

c.46A>C

7 papers

NM_003073.5

p.K16*

c.46A>T

1 paper

NM_003073.5

p.K16fs

c.46_47fs

1 paper

NM_003073.5

p.K16R

c.47A>G

1 paper

NM_003073.5

p.V15V

c.45G>A

1 paper

NM_003073.5

p.V15V

c.45G>C

1 paper

NM_003073.5

p.V15V

c.45G>T

1 paper

NM_003073.5

p.V15E

c.44T>A

1 paper

NM_003073.5

p.V15A

c.44T>C

1 paper

NM_003073.5

p.V15G

c.44T>G

13 papers

NM_003073.5

p.P14H

c.41C>A

1 paper

NM_003073.5

p.F17L

c.51C>A