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.A382A

c.1146C>A

Surrounding Variants

1 paper

NM_003073.5

p.A382A

c.1146C>G

1 paper

NM_003073.5

p.A382A

c.1146C>T

2 papers

NM_003073.5

p.P383T

c.1147C>A

1 paper

NM_003073.5

p.A382D

c.1145C>A

11 papers

NM_003073.5

p.P383fs

c.1147_1148fs

1 paper

NM_003073.5

p.A382G

c.1145C>G

1 paper

NM_003073.5

p.P383A

c.1147C>G

3 papers

NM_003073.5

p.A382V

c.1145C>T

3 papers

NM_003073.5

p.P383S

c.1147C>T

8 papers

NM_001007468.3

p.P374fs

c.1120_1121fs

NM_003073.5

p.P383fs

c.1147_1148fs

1 paper

NM_003073.5

p.P383Q

c.1148C>A

3 papers

NM_003073.5

p.P383R

c.1148C>G