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.R190G

c.568C>G

Surrounding Variants

1 paper

NM_003073.5

p.R190_E194insFs

c.570_582dup13

8 papers

NM_003073.5

p.R190W

c.568C>T

1 paper

NM_003073.5

p.R190_D196insFs

c.570_586dup17

1 paper

NM_003073.5

p.I189M

c.567C>G

2 papers

NM_003073.5

p.R190Q

c.569G>A

1 paper

NM_003073.5

p.R190L

c.569G>T

1 paper

NM_003073.5

p.L191_I195insFs

c.572_585dup14

1 paper

NM_003073.5

p.I189T

c.566T>C

1 paper

NM_003073.5

p.I189insFs

c.566_567ins19

3 papers

NM_003073.5

p.I189fs

c.565_566fs

1 paper

NM_003073.5

p.L191M

c.571C>A

1 paper

NM_003073.5

p.L191fs

c.571_572fs