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.R341G

c.1021C>G

Surrounding Variants

1 paper

NM_003073.5

p.R341R

c.1021C>A

5 papers

NM_003073.5

p.R341W

c.1021C>T

2 papers

NM_003073.5

p.R341fs

c.1021_1022fs

1 paper

NM_003073.5

p.I340I

c.1020C>A

1 paper

NM_003073.5

p.I340M

c.1020C>G

1 paper

NM_003073.5

p.I340I

c.1020C>T

1 paper

NM_003073.5

p.R341Q

c.1022G>A

1 paper

NM_003073.5

p.R341P

c.1022G>C

2 papers

NM_003073.5

p.R341L

c.1022G>T

2 papers

NM_003073.5

p.R341R

c.1023G>A

1 paper

NM_003073.5

p.R341R

c.1023G>C

1 paper

NM_003073.5

p.R341R

c.1023G>T