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

47 papers

NM_003073.5

p.K364del1

c.1090_1091delAAG

Surrounding Variants

1 paper

NM_003073.5

p.E362K

c.1084G>A

1 paper

NM_003073.5

p.E362Q

c.1084G>C

2 papers

NM_003073.5

p.E362*

c.1084G>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.M361I

c.1083G>A

1 paper

NM_003073.5

p.M361I

c.1083G>C

1 paper

NM_003073.5

p.M361I

c.1083G>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