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.T56I

c.167C>T

Surrounding Variants

1 paper

NM_003073.5

p.T56_V57delFs

c.168_169delTG

1 paper

NM_003073.5

p.A55A

c.165C>A

1 paper

NM_003073.5

p.V57M

c.169G>A

1 paper

NM_003073.5

p.V57fs

c.169_170fs

1 paper

NM_003073.5

p.A55D

c.164C>A

1 paper

NM_003073.5

p.V57E

c.170T>A

7 papers

NM_003073.5

p.R60delFs

c.178_179delAG

2 papers

NM_003073.5

p.L54P

c.161T>C

1 paper

NM_003073.5

p.R60_G69insFs

c.178_205dup28

1 paper

NM_003073.5

p.E59V

c.176A>T

3 papers

NM_003073.5

p.R53Q

c.158G>A

1 paper

NM_003073.5

p.R53P

c.158G>C