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.D78Splc

c.232+4C>T

Surrounding Variants

1 paper

NM_003073.5

p.K77fs

c.229_230fs

2 papers

NM_003073.5

p.K77*

c.229A>T

1 paper

NM_003073.5

p.T76_K77delFs

c.228_231del4

2 papers

NM_003073.5

p.T76A

c.226A>G

1 paper

NM_003073.5

p.N75T

c.224A>C

1 paper

NM_003073.5

p.P74P

c.222T>C

1 paper

NM_003073.5

p.P74A

c.220C>G

2 papers

NM_003073.5

p.P74S

c.220C>T

1 paper

NM_003073.5

p.K73R

c.218A>G

1 paper

NM_003073.5

p.T72delins

c.216delinsTACC

13 papers

NM_003073.5

p.T72K

c.215C>A

2 papers

NM_003073.5

p.T72R

c.215C>G