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.A382P

c.1144G>C

Surrounding Variants

2 papers

NM_003073.5

p.A382T

c.1144G>A

8 papers

NM_003073.5

p.A382fs

c.1144_1145fs

1 paper

NM_003073.5

p.A382S

c.1144G>T

26 papers

NM_003073.5

p.A382delFs

c.1145delC

NM_001007468.3

p.P383delFs

c.1148delC

2 papers

NM_003073.5

p.A382fs

c.1144_1145fs

1 paper

NM_003073.5

p.A382D

c.1145C>A

1 paper

NM_003073.5

p.A382G

c.1145C>G

3 papers

NM_003073.5

p.A382V

c.1145C>T

1 paper

NM_003073.5

p.T381T

c.1143G>A

1 paper

NM_003073.5

p.T381T

c.1143G>C

1 paper

NM_003073.5

p.T381T

c.1143G>T

1 paper

NM_003073.5

p.T381_A382delins

c.1143_1144delinsAA