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

3 papers

NM_003073.5

p.L378F

c.1132C>T

Surrounding Variants

1 paper

NM_003073.5

p.L378I

c.1132C>A

1 paper

NM_003073.5

p.L378_A379ins4

c.1132_1136ins12

1 paper

NM_003073.5

p.L378V

c.1132C>G

1 paper

NM_003073.5

p.L378fs

c.1132_1133fs

1 paper

NM_003073.5

p.R377R

c.1131T>A

1 paper

NM_003073.5

p.L378H

c.1133T>A

3 papers

NM_003073.5

p.L378P

c.1133T>C

2 papers

NM_003073.5

p.R377R

c.1131T>C

1 paper

NM_003073.5

p.R377R

c.1131T>G

1 paper

NM_003073.5

p.L378R

c.1133T>G

85 papers

NM_003073.5

p.R377H

c.1130G>A

5 papers

NM_003073.5

p.R377P

c.1130G>C