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.L352L

c.1054C>T

Surrounding Variants

1 paper

NM_003073.5

p.L352M

c.1054C>A

1 paper

NM_003073.5

p.L352V

c.1054C>G

3 papers

NM_003073.5

p.L352fs

c.1054_1055fs

1 paper

NM_003073.5

p.P351P

c.1053A>C

1 paper

NM_003073.5

p.P351P

c.1053A>G

1 paper

NM_003073.5

p.P351P

c.1053A>T

1 paper

NM_003073.5

p.L352Q

c.1055T>A

1 paper

NM_003073.5

p.L352P

c.1055T>C

1 paper

NM_003073.5

p.L352R

c.1055T>G

1 paper

NM_003073.5

p.L353_E354del2

c.1057_1061del6

1 paper

NM_003073.5

p.P351Q

c.1052C>A

1 paper

NM_003073.5

p.P351R

c.1052C>G