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

2 papers

NM_003073.5

p.R373W

c.1117A>T

Surrounding Variants

1 paper

NM_003073.5

p.R373R

c.1117A>C

3 papers

NM_003073.5

p.R373G

c.1117A>G

1 paper

NM_003073.5

p.R373fs

c.1117_1118fs

6 papers

NM_003073.5

p.T372T

c.1116G>A

5 papers

NM_003073.5

p.R373K

c.1118G>A

2 papers

NM_003073.5

p.R373T

c.1118G>C

1 paper

NM_003073.5

p.T372T

c.1116G>C

2 papers

NM_003073.5

p.T372T

c.1116G>T

1 paper

NM_003073.5

p.R373M

c.1118G>T

1 paper

NM_003073.5

p.T372K

c.1115C>A

1 paper

NM_003073.5

p.T372R

c.1115C>G

2 papers

NM_003073.5

p.T372M

c.1115C>T