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.E337D

c.1011G>C

Surrounding Variants

1 paper

NM_003073.5

p.E337E

c.1011G>A

1 paper

NM_003073.5

p.E337D

c.1011G>T

1 paper

NM_003073.5

p.E337A

c.1010A>C

1 paper

NM_003073.5

p.I338L

c.1012A>C

1 paper

NM_003073.5

p.E337G

c.1010A>G

1 paper

NM_003073.5

p.I338V

c.1012A>G

1 paper

NM_003073.5

p.E337V

c.1010A>T

1 paper

NM_003073.5

p.I338F

c.1012A>T

1 paper

NM_003073.5

p.E337K

c.1009G>A

2 papers

NM_003073.5

p.E337Q

c.1009G>C

1 paper

NM_003073.5

p.E337*

c.1009G>T

1 paper

NM_003073.5

p.I338N

c.1013T>A