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.G344R

c.1030G>C

Surrounding Variants

2 papers

NM_003073.5

p.G344S

c.1030G>A

1 paper

NM_003073.5

p.G344C

c.1030G>T

1 paper

NM_003073.5

p.G344fs

c.1030_1031fs

2 papers

NM_003073.5

p.T343T

c.1029G>A

1 paper

NM_003073.5

p.G344D

c.1031G>A

1 paper

NM_003073.5

p.T343T

c.1029G>C

1 paper

NM_003073.5

p.G344A

c.1031G>C

1 paper

NM_003073.5

p.T343T

c.1029G>T

1 paper

NM_003073.5

p.G344V

c.1031G>T

1 paper

NM_003073.5

p.T343K

c.1028C>A

1 paper

NM_003073.5

p.G344G

c.1032C>A

1 paper

NM_003073.5

p.T343R

c.1028C>G