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.Q368H

c.1104G>C

Surrounding Variants

1 paper

NM_003073.5

p.Q368Q

c.1104G>A

1 paper

NM_003073.5

p.Q368H

c.1104G>T

1 paper

NM_003073.5

p.Q368P

c.1103A>C

2 papers

NM_003073.5

p.Q368R

c.1103A>G

1 paper

NM_003073.5

p.Q368L

c.1103A>T

2 papers

NM_003073.5

p.D369_R370del2

c.1105_1109del6

1 paper

NM_003073.5

p.D369N

c.1105G>A

1 paper

NM_003073.5

p.D369H

c.1105G>C

1 paper

NM_003073.5

p.D369Y

c.1105G>T

1 paper

NM_003073.5

p.D369A

c.1106A>C

1 paper

NM_003073.5

p.D369G

c.1106A>G

5 papers

NM_003073.5

p.D369V

c.1106A>T