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

2 papers

NM_003073.5

p.N371_T372del1

c.1112_1114delACA

Surrounding Variants

1 paper

NM_003073.5

p.R370R

c.1110G>A

4 papers

NM_003073.5

p.R370S

c.1110G>C

4 papers

NM_003073.5

p.R370S

c.1110G>T

1 paper

NM_003073.5

p.N371H

c.1111A>C

1 paper

NM_003073.5

p.N371D

c.1111A>G

2 papers

NM_003073.5

p.N371Y

c.1111A>T

1 paper

NM_003073.5

p.R370K

c.1109G>A

2 papers

NM_003073.5

p.R370T

c.1109G>C

6 papers

NM_003073.5

p.R370M

c.1109G>T

1 paper

NM_003073.5

p.R370R

c.1108A>C

1 paper

NM_003073.5

p.N371T

c.1112A>C

3 papers

NM_003073.5

p.R370G

c.1108A>G