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

10 papers

NM_003073.5

p.E31V

c.92A>T

Surrounding Variants

2 papers

NM_003073.5

p.E31G

c.92A>G

4 papers

NM_003073.5

p.E31K

c.91G>A

2 papers

NM_003073.5

p.E31E

c.93G>A

5 papers

NM_003073.5

p.E31D

c.93G>C

1 paper

NM_003073.5

p.E31Q

c.91G>C

1 paper

NM_003073.5

p.E31fs

c.91_92fs

3 papers

NM_003073.5

p.E31D

c.93G>T

2 papers

NM_003073.5

p.E31*

c.91G>T

1 paper

NM_003073.5

p.E31_V32Splc

c.93+1G>C

1 paper

NM_003073.5

p.S30F

c.89C>T

3 papers

NM_003073.5

p.E31_V32Splc

c.93+2T>C

1 paper

NM_003073.5

p.E31_V32Splc

c.93+2T>G