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.T381S

c.1141A>T

Surrounding Variants

1 paper

NM_003073.5

p.T381P

c.1141A>C

2 papers

NM_003073.5

p.T381A

c.1141A>G

1 paper

NM_003073.5

p.T381fs

c.1141_1142fs

1 paper

NM_003073.5

p.N380K

c.1140C>A

1 paper

NM_003073.5

p.T381K

c.1142C>A

7 papers

NM_003073.5

p.T381R

c.1142C>G

1 paper

NM_003073.5

p.N380K

c.1140C>G

2 papers

NM_003073.5

p.T381M

c.1142C>T

1 paper

NM_003073.5

p.N380N

c.1140C>T

1 paper

NM_003073.5

p.T381delFs

c.1141delA

12 papers

NM_003073.5

p.T381delFs

c.1143delG

1 paper

NM_003073.5

p.N380T

c.1139A>C