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.D202_A203insG

c.604_608ins3

Surrounding Variants

1 paper

NM_003073.5

p.D202N

c.604G>A

2 papers

NM_003073.5

p.D202Y

c.604G>T

2 papers

NM_003073.5

p.D202fs

c.604_605fs

3 papers

NM_003073.5

p.D202G

c.605A>G

1 paper

NM_003073.5

p.D202delFs

c.606delC

2 papers

NM_003073.5

p.D202E

c.606C>A

2 papers

NM_003073.5

p.D202E

c.606C>G

1 paper

NM_003073.5

p.D202D

c.606C>T

1 paper

NM_003073.5

p.A203delFs

c.607delG

7 papers

NM_003073.5

p.R201Q

c.602G>A

2 papers

NM_003073.5

p.R201L

c.602G>T

1 paper

NM_003073.5

p.R201R

c.601C>A