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.K363Q

c.1087A>C

Surrounding Variants

6 papers

NM_003073.5

p.K363E

c.1087A>G

4 papers

NM_003073.5

p.K363*

c.1087A>T

1 paper

NM_003073.5

p.K363T

c.1088A>C

1 paper

NM_003073.5

p.K363R

c.1088A>G

1 paper

NM_003073.5

p.K363M

c.1088A>T

1 paper

NM_003073.5

p.E362E

c.1086G>A

1 paper

NM_003073.5

p.E362D

c.1086G>C

1 paper

NM_003073.5

p.E362D

c.1086G>T

1 paper

NM_003073.5

p.E362A

c.1085A>C

1 paper

NM_003073.5

p.E362G

c.1085A>G

1 paper

NM_003073.5

p.E362V

c.1085A>T

1 paper

NM_003073.5

p.K363K

c.1089G>A