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.R374R

c.1122G>A

Surrounding Variants

1 paper

NM_003073.5

p.R374R

c.1122G>C

1 paper

NM_003073.5

p.R374R

c.1122G>T

2 papers

NM_003073.5

p.M375L

c.1123A>C

1 paper

NM_003073.5

p.M375V

c.1123A>G

2 papers

NM_003073.5

p.M375L

c.1123A>T

57 papers

NM_003073.5

p.R374Q

c.1121G>A

NM_001007468.3

p.R365Q

c.1094G>A

4 papers

NM_003073.5

p.R374P

c.1121G>C

3 papers

NM_003073.5

p.R374L

c.1121G>T

2 papers

NM_003073.5

p.R374R

c.1120C>A

3 papers

NM_003073.5

p.R374G

c.1120C>G

17 papers

NM_003073.5

p.R374W

c.1120C>T

1 paper

NM_003073.5

p.M375K

c.1124T>A