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.D345G

c.1034A>G

Surrounding Variants

1 paper

NM_003073.5

p.D345A

c.1034A>C

1 paper

NM_003073.5

p.D345V

c.1034A>T

1 paper

NM_003073.5

p.D345N

c.1033G>A

1 paper

NM_003073.5

p.D345H

c.1033G>C

1 paper

NM_003073.5

p.D345Y

c.1033G>T

1 paper

NM_003073.5

p.D345E

c.1035T>A

1 paper

NM_003073.5

p.D345D

c.1035T>C

1 paper

NM_003073.5

p.D345E

c.1035T>G

1 paper

NM_003073.5

p.A346delFs

c.1037_1038delCG

1 paper

NM_001362877.2

p.A364_D365del1

c.1091_1093delCGG

1 paper

NM_003073.5

p.G344G

c.1032C>A

1 paper

NM_003073.5

p.G344G

c.1032C>G