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

11 papers

NM_003073.5

p.M4I

c.12G>C

Surrounding Variants

3 papers

NM_003073.5

p.M4I

c.12G>A

1 paper

NM_003073.5

p.M4_A5insFs

c.12_13ins7

1 paper

NM_003073.5

p.A5ins1

c.13_14insATG

1 paper

NM_003073.5

p.M4I

c.12G>T

2 papers

NM_003073.5

p.A5T

c.13G>A

1 paper

NM_003073.5

p.A5P

c.13G>C

1 paper

NM_003073.5

p.A5fs

c.13_14fs

1 paper

NM_003073.5

p.A5fs

c.13_14fs

1 paper

NM_003073.5

p.M4L

c.10A>C

1 paper

NM_003073.5

p.M4Fs

c.10delinsTTGGGTTAAFs

1 paper

NM_003073.5

p.M3Fs

c.9delinsTTFs

1 paper

NM_003073.5

p.L6insFs

c.16_17ins13