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.E362del1

c.1084_1085delGAG

Surrounding Variants

1 paper

NM_003073.5

p.M361K

c.1082T>A

1 paper

NM_003073.5

p.M361T

c.1082T>C

1 paper

NM_003073.5

p.M361R

c.1082T>G

1 paper

NM_003073.5

p.E362_K363del2

c.1084_1088del6

1 paper

NM_003073.5

p.M361L

c.1081A>C

1 paper

NM_003073.5

p.M361V

c.1081A>G

1 paper

NM_003073.5

p.M361L

c.1081A>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.E360E

c.1080G>A

1 paper

NM_003073.5

p.E362K

c.1084G>A