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

4 papers

NM_003074.4

p.R652C

c.1954C>T

Surrounding Variants

1 paper

NM_003074.4

p.V649I

c.1945G>A

1 paper

NM_003074.4

p.C657R

c.1969T>C

1 paper

NM_003074.4

p.L662L

c.1984T>C

1 paper

NM_003074.4

p.L662F

c.1986G>T

3 papers

NM_003074.4

p.D675G

c.2024A>G

1 paper

NM_003074.4

p.I666_L678delFs

c.1996_2032del37

1 paper

NM_003074.4

p.A703V

c.2108C>T

1 paper

NM_003074.4

p.A717V

c.2150C>T

1 paper

NM_003074.4

p.E720D

c.2160G>T

1 paper

NM_003074.4

p.E720D

c.2160G>C

1 paper

NM_003074.4

p.E721D

c.2163G>T

1 paper

NM_003074.4

p.E721D

c.2163G>C