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

3 papers

NM_003073.5

p.H68L

c.203A>T

Surrounding Variants

2 papers

NM_003073.5

p.H68_T72Fs

c.203_216delinsTACCFs

1 paper

NM_003073.5

p.H68insFs

c.202_203insG

1 paper

NM_003073.5

p.H68Y

c.202C>T

3 papers

NM_003073.5

p.H68fs

c.202_203fs

1 paper

NM_003073.5

p.H68Q

c.204T>A

1 paper

NM_003073.5

p.S67S

c.201A>G

1 paper

NM_003073.5

p.G69fs

c.205_206fs

1 paper

NM_003073.5

p.S67*

c.200C>A

1 paper

NM_003073.5

p.S67*

c.200C>G

3 papers

NM_003073.5

p.S67L

c.200C>T

1 paper

NM_003073.5

p.G69D

c.206G>A

3 papers

NM_003073.5

p.G69_K70insFs

c.207_208dupTA