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

2 papers

NM_003073.5

p.F25L

c.75C>G

Surrounding Variants

2 papers

NM_003073.5

p.F25L

c.75C>A

2 papers

NM_003073.5

p.Y26N

c.76T>A

3 papers

NM_003073.5

p.F25L

c.73T>C

1 paper

NM_003073.5

p.Y26*

c.78C>A

1 paper

NM_003073.5

p.Y26*

c.78C>G

1 paper

NM_003073.5

p.E24D

c.72G>C

1 paper

NM_003073.5

p.E24D

c.72G>T

1 paper

NM_003073.5

p.E24A

c.71A>C

1 paper

NM_003073.5

p.E24Q

c.70G>C

1 paper

NM_003073.5

p.E24delFs

c.71delA

2 papers

NM_003073.5

p.E24fs

c.70_71fs

1 paper

NM_003073.5

p.M27R

c.80T>G