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

6 papers

NM_003073.5

p.T72fs

c.214_215fs

Surrounding Variants

1 paper

NM_003073.5

p.T72A

c.214A>G

1 paper

NM_003073.5

p.T72fs

c.214_215fs

1 paper

NM_003073.5

p.K71_T72insFs

c.213_214insT

1 paper

NM_003073.5

p.K71K

c.213A>G

13 papers

NM_003073.5

p.T72K

c.215C>A

2 papers

NM_003073.5

p.T72R

c.215C>G

1 paper

NM_003073.5

p.T72I

c.215C>T

1 paper

NM_003073.5

p.K71R

c.212A>G

1 paper

NM_003073.5

p.K71I

c.212A>T

1 paper

NM_003073.5

p.T72delins

c.216delinsTACC

1 paper

NM_003073.5

p.K71insFs

c.211_212ins11

1 paper

NM_003073.5

p.K73R

c.218A>G