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.M2insFs

c.4_5insC

Surrounding Variants

1 paper

NM_003073.5

p.M2Fs

c.4delinsTGFs

1 paper

NM_003073.5

p.M1I

c.3G>A

1 paper

NM_003073.5

p.M1_M2insFs

c.3_4insA

1 paper

NM_003073.5

p.M3insFs

c.7dupA

1 paper

NM_003073.5

p.M1delins

c.2delinsATGA

1 paper

NM_003073.5

p.M1V

c.1A>G

1 paper

NM_003073.5

p.M1Fs

c.1delinsTTFs

2 papers

NM_003073.5

p.M4_A5ins1

c.12_13insATG

3 papers

NM_003073.5

p.M4del1

c.10_11delATG

1 paper

NM_003073.5

p.M1_M3del0

c.1_9del9

1 paper

NM_003073.5

p.M1_T9del9

c.1_26del27

1 paper

NM_003073.5

p.M3T

c.8T>C