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.H177Y

c.529C>T

Surrounding Variants

1 paper

NM_003073.5

p.H177fs

c.529_530fs

1 paper

NM_003073.5

p.H177delFs

c.531delT

2 papers

NM_003073.5

p.I176I

c.528C>A

1 paper

NM_003073.5

p.H177ins5

c.529_530ins15

2 papers

NM_003073.5

p.I176delFs

c.528delC

2 papers

NM_003073.5

p.E178_N179del2

c.532_536del6

1 paper

NM_003073.5

p.E178K

c.532G>A

1 paper

NM_003073.5

p.E178G

c.533A>G

2 papers

NM_003073.5

p.E178D

c.534G>C

2 papers

NM_003073.5

p.E178D

c.534G>T

1 paper

NM_003073.5

p.N179_A180insFs

c.537_540dup4

1 paper

NM_003073.5

p.Q182insFs

c.544_545ins7