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.N277fs

c.829_830fs

Surrounding Variants

1 paper

NM_003074.4

p.F276F

c.828C>T

1 paper

NM_003074.4

p.F276L

c.828C>G

1 paper

NM_003074.4

p.F276insFs

c.827dupT

1 paper

NM_003074.4

p.F276L

c.828C>A

2 papers

NM_003074.4

p.W279G

c.835T>G

1 paper

NM_003074.4

p.F276L

c.826T>C

3 papers

NM_003074.4

p.W279*

c.836G>A

3 papers

NM_003074.4

p.W279*

c.837G>A

1 paper

NM_003074.4

p.D274A

c.821A>C

1 paper

NM_003074.4

p.D284N

c.850G>A

1 paper

NM_003074.4

p.D284E

c.852T>G

1 paper

NM_003074.4

p.D284E

c.852T>A