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.A339A

c.1017C>T

Surrounding Variants

1 paper

NM_003073.5

p.A339A

c.1017C>A

1 paper

NM_003073.5

p.A339A

c.1017C>G

1 paper

NM_003073.5

p.I340delFs

c.1018_1019delAT

1 paper

NM_003073.5

p.I340L

c.1018A>C

3 papers

NM_003073.5

p.I340V

c.1018A>G

1 paper

NM_003073.5

p.I340F

c.1018A>T

2 papers

NM_003073.5

p.I340fs

c.1018_1019fs

1 paper

NM_003073.5

p.A339D

c.1016C>A

2 papers

NM_001362877.2

p.A357G

c.1070C>G

NM_003073.5

p.A339G

c.1016C>G

1 paper

NM_003073.5

p.A339V

c.1016C>T

1 paper

NM_003073.5

p.A339T

c.1015G>A

1 paper

NM_003073.5

p.A339P

c.1015G>C