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.E354_T355delFs

c.1062_1063delGA

Surrounding Variants

1 paper

NM_003073.5

p.L353L

c.1059G>A

1 paper

NM_003073.5

p.L353L

c.1059G>C

1 paper

NM_003073.5

p.L353L

c.1059G>T

1 paper

NM_003073.5

p.E354K

c.1060G>A

1 paper

NM_003073.5

p.E354Q

c.1060G>C

1 paper

NM_003073.5

p.E354fs

c.1060_1061fs

1 paper

NM_003073.5

p.E354*

c.1060G>T

1 paper

NM_003073.5

p.L353Q

c.1058T>A

1 paper

NM_003073.5

p.L353P

c.1058T>C

1 paper

NM_003073.5

p.L353R

c.1058T>G

1 paper

NM_003073.5

p.E354A

c.1061A>C

2 papers

NM_003073.5

p.E354G

c.1061A>G