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.E59D

c.177G>T

Surrounding Variants

2 papers

NM_003073.5

p.E59E

c.177G>A

1 paper

NM_003073.5

p.E59D

c.177G>C

1 paper

NM_003073.5

p.R60_G69insFs

c.178_205dup28

1 paper

NM_003073.5

p.R60fs

c.178_179fs

1 paper

NM_003073.5

p.E59V

c.176A>T

1 paper

NM_003073.5

p.R60fs

c.178_179fs

2 papers

NM_003073.5

p.R60S

c.180G>C

2 papers

NM_003073.5

p.R60S

c.180G>T

1 paper

NM_003073.5

p.K61*

c.181A>T

7 papers

NM_003073.5

p.R60delFs

c.178_179delAG

1 paper

NM_003073.5

p.K61M

c.182A>T

1 paper

NM_003073.5

p.K61N

c.183G>C