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.M375R

c.1124T>G

Surrounding Variants

1 paper

NM_003073.5

p.M375K

c.1124T>A

1 paper

NM_003073.5

p.M375T

c.1124T>C

1 paper

NM_003073.5

p.M375insFs

c.1125dupG

1 paper

NM_003073.5

p.M375_L378insFs

c.1125_1132dup8

2 papers

NM_003073.5

p.M375L

c.1123A>C

1 paper

NM_003073.5

p.M375V

c.1123A>G

2 papers

NM_003073.5

p.M375L

c.1123A>T

2 papers

NM_003073.5

p.M375I

c.1125G>A

2 papers

NM_003073.5

p.M375I

c.1125G>C

2 papers

NM_003073.5

p.M375I

c.1125G>T

1 paper

NM_003073.5

p.R376R

c.1126A>C

4 papers

NM_003073.5

p.R376G

c.1126A>G