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.E178D

c.534G>C

Surrounding Variants

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.E178G

c.533A>G

1 paper

NM_003073.5

p.Q182insFs

c.544_545ins7

2 papers

NM_003073.5

p.N179T

c.536A>C

1 paper

NM_003073.5

p.N179S

c.536A>G

2 papers

NM_003073.5

p.A180_P188delFs

c.538_563del26

1 paper

NM_003073.5

p.E178K

c.532G>A

1 paper

NM_003073.5

p.N179K

c.537C>A

1 paper

NM_003073.5

p.A180_P183insFs

c.540_547dup8

1 paper

NM_003073.5

p.N179K

c.537C>G

1 paper

NM_003073.5

p.N179N

c.537C>T