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.C350S

c.1049G>C

Surrounding Variants

1 paper

NM_003073.5

p.C350Y

c.1049G>A

3 papers

NM_003073.5

p.P351insFs

c.1052dupC

1 paper

NM_003073.5

p.C350F

c.1049G>T

1 paper

NM_003073.5

p.P351delFs

c.1052delC

3 papers

NM_003073.5

p.P351_L352delFs

c.1051_1054del4

2 papers

NM_003073.5

p.C350*

c.1050C>A

1 paper

NM_003073.5

p.C350W

c.1050C>G

1 paper

NM_003073.5

p.C350C

c.1050C>T

1 paper

NM_003073.5

p.C350S

c.1048T>A

1 paper

NM_003073.5

p.C350R

c.1048T>C

1 paper

NM_003073.5

p.C350G

c.1048T>G

1 paper

NM_003073.5

p.P351T

c.1051C>A