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.Q18P

c.53A>C

Surrounding Variants

1 paper

NM_003073.5

p.Q18K

c.52C>A

2 papers

NM_003073.5

p.Q18*

c.52C>T

1 paper

NM_003073.5

p.F17L

c.51C>A

1 paper

NM_003073.5

p.L19insFs

c.55_56insAA

1 paper

NM_003073.5

p.F17L

c.51C>G

1 paper

NM_003073.5

p.F17F

c.51C>T

2 papers

NM_003073.5

p.E20insFs

c.58dupG

1 paper

NM_003073.5

p.E20_G23insFs

c.59_68dup10

1 paper

NM_003073.5

p.E20Q

c.58G>C

1 paper

NM_003073.5

p.D21insFs

c.61dupG

1 paper

NM_003073.5

p.E20A

c.59A>C

1 paper

NM_003073.5

p.K16R

c.47A>G