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

2 papers

NM_003073.5

p.V145L

c.433G>T

NM_001007468.3

p.V136L

c.406G>T

Surrounding Variants

2 papers

NM_003073.5

p.V145M

c.433G>A

2 papers

NM_003073.5

p.V145L

c.433G>C

NM_001007468.3

p.V136L

c.406G>C

1 paper

NM_003073.5

p.A144A

c.432C>T

2 papers

NM_003073.5

p.A144V

c.431C>T

2 papers

NM_003073.5

p.P146A

c.436C>G

1 paper

NM_003073.5

p.P146fs

c.436_437fs

1 paper

NM_003073.5

p.A144fs

c.430_431fs

1 paper

NM_003073.5

p.A144fs

c.430_431fs

3 papers

NM_003073.5

p.A144delFs

c.430delG

2 papers

NM_003073.5

p.P146P

c.438A>G

1 paper

NM_003073.5

p.C147_T150del4

c.439_449del12

1 paper

NM_003073.5

p.D143fs

c.427_428fs