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

3 papers

NM_003073.5

p.M208L

c.622A>T

Surrounding Variants

3 papers

NM_003073.5

p.M208L

c.622A>C

1 paper

NM_003073.5

p.N207S

c.620A>G

1 paper

NM_003073.5

p.M208I

c.624G>A

1 paper

NM_003073.5

p.M208I

c.624G>C

1 paper

NM_003073.5

p.M208I

c.624G>T

2 papers

NM_003073.5

p.N209delFs

c.626delA

1 paper

NM_003073.5

p.N209fs

c.625_626fs

7 papers

NM_003073.5

p.W206*

c.618G>A

1 paper

NM_003073.5

p.W206C

c.618G>C

1 paper

NM_003073.5

p.W206C

c.618G>T

11 papers

NM_003073.5

p.W206*

c.617G>A

2 papers

NM_003073.5

p.E210K

c.628G>A