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.C167Splc

c.500+14G>A

Surrounding Variants

1 paper

NM_003073.5

p.C167Splc

c.500+13C>T

1 paper

NM_003073.5

p.C167Splc

c.500+18C>T

1 paper

NM_003073.5

p.C167Splc

c.500+20C>T

1 paper

NM_003073.5

p.C167Splc

c.500+7A>G

3 papers

NM_003073.5

p.C167Splc

c.500+5G>T

2 papers

NM_003073.5

p.C167Splc

c.500+24C>G

1 paper

NM_003073.5

p.C167Splc

c.500+25C>A

2 papers

NM_003073.5

p.C167*

c.501C>A

7 papers

NM_003073.5

p.C167Splc

c.500+1G>A

1 paper

NM_003073.5

p.C167Splc

c.500+1G>T

7 papers

NM_003073.5

p.C167Y

c.500G>A

1 paper

NM_003073.5

p.C167Splc

c.500+29C>A