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.T149T

c.447A>G

Surrounding Variants

2 papers

NM_003073.5

p.T150_I151insC

c.448_452ins3

1 paper

NM_003073.5

p.T150A

c.448A>G

3 papers

NM_003073.5

p.T149K

c.446C>A

1 paper

NM_003073.5

p.T149I

c.446C>T

1 paper

NM_003073.5

p.T149S

c.445A>T

1 paper

NM_003073.5

p.S148F

c.443C>T

1 paper

NM_003073.5

p.I151_N152insFs

c.453_454insT

2 papers

NM_003073.5

p.N152D

c.454A>G

1 paper

NM_003073.5

p.N152Y

c.454A>T

1 paper

NM_003073.5

p.S148_T150delFs

c.442_449del8

1 paper

NM_003073.5

p.N152S

c.455A>G

1 paper

NM_003073.5

p.C147G

c.439T>G