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.I28I

c.84C>T

Surrounding Variants

1 paper

NM_003073.5

p.I28M

c.84C>G

2 papers

NM_003073.5

p.G29R

c.85G>C

2 papers

NM_003073.5

p.G29_E31del0

c.86_91del6

1 paper

NM_003073.5

p.G29D

c.86G>A

1 paper

NM_003073.5

p.M27I

c.81G>A

1 paper

NM_003073.5

p.M27R

c.80T>G

1 paper

NM_003073.5

p.S30delFs

c.90delC

1 paper

NM_003073.5

p.S30F

c.89C>T

1 paper

NM_003073.5

p.Y26*

c.78C>A

1 paper

NM_003073.5

p.Y26*

c.78C>G

4 papers

NM_003073.5

p.E31K

c.91G>A

1 paper

NM_003073.5

p.E31Q

c.91G>C