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

2 papers

NM_003073.5

p.Q348delFs

c.1042delC

Surrounding Variants

1 paper

NM_003073.5

p.D347A

c.1040A>C

1 paper

NM_003073.5

p.D347G

c.1040A>G

1 paper

NM_003073.5

p.D347V

c.1040A>T

1 paper

NM_003073.5

p.D347E

c.1041C>A

1 paper

NM_003073.5

p.D347E

c.1041C>G

1 paper

NM_003073.5

p.D347D

c.1041C>T

1 paper

NM_003073.5

p.D347N

c.1039G>A

2 papers

NM_003073.5

p.D347H

c.1039G>C

1 paper

NM_003073.5

p.D347fs

c.1039_1040fs

1 paper

NM_003073.5

p.D347Y

c.1039G>T

1 paper

NM_003073.5

p.Q348K

c.1042C>A

1 paper

NM_003073.5

p.Q348E

c.1042C>G