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.R376S

c.1128G>C

Surrounding Variants

2 papers

NM_003073.5

p.R376R

c.1128G>A

1 paper

NM_003073.5

p.R376S

c.1128G>T

3 papers

NM_003073.5

p.R377S

c.1129C>A

2 papers

NM_003073.5

p.R377G

c.1129C>G

26 papers

NM_003073.5

p.R377C

c.1129C>T

1 paper

NM_003073.5

p.R377delFs

c.1130delG

1 paper

NM_003073.5

p.R377fs

c.1129_1130fs

3 papers

NM_003073.5

p.R376K

c.1127G>A

1 paper

NM_003073.5

p.R376T

c.1127G>C

2 papers

NM_003073.5

p.R376M

c.1127G>T

1 paper

NM_003073.5

p.R376R

c.1126A>C

4 papers

NM_003073.5

p.R376G

c.1126A>G