Varaico: Literature-Extracted Genetic Variants

SMARCC1

159 papers

RefSeq Summary

The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by...

Pfam Domains

SWIRM-assoc_2aa 32–165UCSCSWIRM-associated domain at the N-terminal

SWIRMaa 452–537UCSCSWIRM domain

Myb_DNA-bindingaa 620–665UCSCMyb-like DNA-binding domain

SWIRM-assoc_3aa 706–772UCSCSWIRM-associated domain at the C-terminal

SWIRM-assoc_1aa 871–954UCSCSWIRM-associated region 1

Gene Aliases

HGNC Name

SWI/SNF related BAF chromatin remodeling complex subunit C1

HGNC Alias Symbols

BAF155; SRG3; Rsc8; CRACC1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003074.4

p.A22T

c.64G>A

Surrounding Variants

1 paper

NM_003074.4

p.A25A

c.75C>A

1 paper

NM_003074.4

p.A26V

c.77C>T

1 paper

NM_003074.4

p.A13A

c.39G>C

1 paper

NM_003074.4

p.T12I

c.35C>T

1 paper

NM_003074.4

p.T12A

c.34A>G

1 paper

NM_003074.4

p.T12P

c.34A>C

1 paper

NM_003074.4

p.G11R

c.31G>C

1 paper

NM_003074.4

p.G11R

c.31G>A

1 paper

NM_003074.4

p.K34*

c.100A>T

1 paper

NM_003074.4

p.G6D

c.17G>A

1 paper

NM_003074.4

p.G37G

c.111C>T

2 papers

NM_003074.4

p.P38L

c.113C>T