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

4 papers

NM_003073.5

p.P173S

c.517C>T

NM_001317946.2

p.P182S

c.544C>T

Surrounding Variants

1 paper

NM_003073.5

p.P173L

c.518C>T

1 paper

NM_003073.5

p.P173_A174ins2

c.519_520ins6

3 papers

NM_003073.5

p.D172G

c.515A>G

1 paper

NM_003073.5

p.A174_V175del2

c.520_524del6

1 paper

NM_003073.5

p.D172N

c.514G>A

1 paper

NM_003073.5

p.A174fs

c.520_521fs

1 paper

NM_003073.5

p.A174S

c.520G>T

1 paper

NM_003073.5

p.A174delFs

c.521delC

1 paper

NM_003073.5

p.H171D

c.511C>G

2 papers

NM_003073.5

p.H171fs

c.511_512fs

1 paper

NM_003073.5

p.D170E

c.510C>A

1 paper

NM_003073.5

p.D170D

c.510C>T