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.T163_F164delins

c.489_490delinsTA

Surrounding Variants

2 papers

NM_003073.5

p.T163I

c.488C>T

2 papers

NM_003073.5

p.F164I

c.490T>A

1 paper

NM_003073.5

p.F164_P165insFs

c.490_493dup4

1 paper

NM_003073.5

p.T163A

c.487A>G

2 papers

NM_003073.5

p.L166delFs

c.496delC

1 paper

NM_001317946.2

p.F155_P156insFs

c.465_466insG

2 papers

NM_003073.5

p.P165S

c.493C>T

2 papers

NM_003073.5

p.P165fs

c.493_494fs

2 papers

NM_003073.5

p.R162K

c.485G>A

2 papers

NM_003073.5

p.P165L

c.494C>T

1 paper

NM_003073.5

p.L166insFs

c.497_498ins5

1 paper

NM_003073.5

p.L166_C167insFs

c.498_499ins5