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.V185_E194del0

c.554_580del27

Surrounding Variants

1 paper

NM_003073.5

p.E184A

c.551A>C

5 papers

NM_003073.5

p.E184K

c.550G>A

1 paper

NM_003073.5

p.E184E

c.552G>A

1 paper

NM_003073.5

p.V185insFs

c.553_554ins5

1 paper

NM_003073.5

p.L186ins2

c.556_557ins6

1 paper

NM_003073.5

p.E184_I189insFs

c.552_565dup14

1 paper

NM_003073.5

p.V185_I189insFs

c.553_565dup13

3 papers

NM_003073.5

p.E184*

c.550G>T

1 paper

NM_003073.5

p.V187insFs

c.559_560ins11

1 paper

NM_003073.5

p.P183P

c.549C>T

1 paper

NM_003073.5

p.V185M

c.553G>A

1 paper

NM_003073.5

p.V185L

c.553G>T