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.V64I

c.190G>A

Surrounding Variants

2 papers

NM_003073.5

p.V64V

c.192T>G

1 paper

NM_003073.5

p.I63fs

c.187_188fs

2 papers

NM_003073.5

p.I63V

c.187A>G

1 paper

NM_003073.5

p.A65fs

c.193_194fs

1 paper

NM_003073.5

p.I63_S66delFs

c.189_196del8

1 paper

NM_003073.5

p.K62R

c.185A>G

1 paper

NM_003073.5

p.K62Q

c.184A>C

2 papers

NM_003073.5

p.S66*

c.197C>A

1 paper

NM_003073.5

p.S66insFs

c.197_198insA

4 papers

NM_003073.5

p.S66L

c.197C>T

1 paper

NM_003073.5

p.K61N

c.183G>C

1 paper

NM_003073.5

p.K61N

c.183G>T