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.E360K

c.1078G>A

Surrounding Variants

1 paper

NM_003073.5

p.E360Q

c.1078G>C

4 papers

NM_003073.5

p.E360*

c.1078G>T

1 paper

NM_003073.5

p.E360A

c.1079A>C

1 paper

NM_003073.5

p.E360G

c.1079A>G

1 paper

NM_003073.5

p.E360V

c.1079A>T

1 paper

NM_003073.5

p.A359A

c.1077T>A

1 paper

NM_003073.5

p.A359A

c.1077T>C

1 paper

NM_003073.5

p.A359A

c.1077T>G

1 paper

NM_003073.5

p.A359D

c.1076C>A

1 paper

NM_003073.5

p.A359G

c.1076C>G

1 paper

NM_003073.5

p.A359V

c.1076C>T

1 paper

NM_003073.5

p.E360E

c.1080G>A