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.I189T

c.566T>C

Surrounding Variants

1 paper

NM_003073.5

p.I189insFs

c.566_567ins19

3 papers

NM_003073.5

p.I189fs

c.565_566fs

1 paper

NM_003073.5

p.R190_D196insFs

c.570_586dup17

1 paper

NM_003073.5

p.I189M

c.567C>G

1 paper

NM_003073.5

p.I189insFs

c.565dupA

1 paper

NM_003073.5

p.R190_E194insFs

c.570_582dup13

1 paper

NM_003073.5

p.R190G

c.568C>G

8 papers

NM_003073.5

p.R190W

c.568C>T

1 paper

NM_003073.5

p.P188P

c.564C>T

1 paper

NM_003073.5

p.I189_D196del8

c.565_587del24

1 paper

NM_003073.5

p.I189_L191insFs

c.565_571dup7

6 papers

NM_003073.5

p.P188L

c.563C>T

NM_001007468.3

p.P179L

c.536C>T