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.Q742R

c.2225A>G

Surrounding Variants

1 paper

NM_003074.4

p.A744V

c.2231C>T

1 paper

NM_003074.4

p.A744G

c.2231C>G

4 papers

NM_003074.4

p.A747T

c.2239G>A

1 paper

NM_003074.4

p.E728_A736delFs

c.2184_2206del23

1 paper

NM_003074.4

p.E735G

c.2204A>G

1 paper

NM_003074.4

p.D752N

c.2254G>A

1 paper

NM_003074.4

p.V729L

c.2185G>T

1 paper

NM_003074.4

p.V729L

c.2185G>C

1 paper

NM_003074.4

p.S759N

c.2276G>A

1 paper

NM_003074.4

p.R724Q

c.2171G>A

1 paper

NM_003074.4

p.R724G

c.2170C>G

1 paper

NM_003074.4

p.E721D

c.2163G>T