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.P48L

c.143C>T

Surrounding Variants

2 papers

NM_003073.5

p.P48H

c.143C>A

1 paper

NM_003073.5

p.S49_L50insFs

c.147_150dup4

2 papers

NM_003073.5

p.P48R

c.143C>G

3 papers

NM_003073.5

p.S49_L50delFs

c.147_150del4

1 paper

NM_003073.5

p.P48Fs

c.144delinsAAFs

5 papers

NM_003073.5

p.P48S

c.142C>T

1 paper

NM_003073.5

p.P48fs

c.142_143fs

21 papers

NM_003073.5

p.Y47*

c.141C>A

19 papers

NM_003073.5

p.Y47*

c.141C>G

1 paper

NM_003073.5

p.S49P

c.145T>C

1 paper

NM_003073.5

p.S49fs

c.145_146fs

1 paper

NM_003073.5

p.P48insFs

c.144dupC