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.K199E

c.595A>G

Surrounding Variants

1 paper

NM_003073.5

p.K199fs

c.595_596fs

1 paper

NM_003073.5

p.K199M

c.596A>T

2 papers

NM_003073.5

p.K199delFs

c.597delG

1 paper

NM_003073.5

p.Q198Q

c.594G>A

8 papers

NM_003073.5

p.Q198*

c.592C>T

2 papers

NM_003073.5

p.Q198fs

c.592_593fs

1 paper

NM_003073.5

p.Q198_T205Fs

c.592_613delinsTGCCTTCCFs

1 paper

NM_003073.5

p.G197G

c.591G>A

2 papers

NM_003073.5

p.G197E

c.590G>A

1 paper

NM_003073.5

p.R201R

c.601C>A

2 papers

NM_003073.5

p.R201G

c.601C>G

35 papers

NM_003073.5

p.R201*

c.601C>T

NM_001007468.3

p.R192*

c.574C>T