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.N342T

c.1025A>C

Surrounding Variants

1 paper

NM_003073.5

p.N342S

c.1025A>G

1 paper

NM_003073.5

p.N342I

c.1025A>T

1 paper

NM_003073.5

p.N342H

c.1024A>C

1 paper

NM_003073.5

p.N342D

c.1024A>G

1 paper

NM_003073.5

p.N342Y

c.1024A>T

1 paper

NM_003073.5

p.N342K

c.1026C>A

1 paper

NM_003073.5

p.N342K

c.1026C>G

1 paper

NM_003073.5

p.N342N

c.1026C>T

1 paper

NM_003073.5

p.T343P

c.1027A>C

1 paper

NM_003073.5

p.T343A

c.1027A>G

1 paper

NM_003073.5

p.T343S

c.1027A>T

2 papers

NM_003073.5

p.R341R

c.1023G>A