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.S453C

c.1357A>T

Surrounding Variants

1 paper

NM_003074.4

p.P452T

c.1354C>A

1 paper

NM_003074.4

p.I451fs

c.1351_1352fs

1 paper

NM_003074.4

p.V435I

c.1303G>A

1 paper

NM_003074.4

p.R433Q

c.1298G>A

1 paper

NM_003074.4

p.A427G

c.1280C>G

1 paper

NM_003074.4

p.D425A

c.1274A>C

1 paper

NM_003074.4

p.K421Q

c.1261A>C

1 paper

NM_003074.4

p.T417K

c.1250C>A

1 paper

NM_003074.4

p.T415T

c.1245A>G

4 papers

NM_003074.4

p.T415fs

c.1243_1244fs

2 papers

NM_003074.4

p.E414_T415insFs

c.1242_1243dupAA

1 paper

NM_003074.4

p.T415fs

c.1243_1244fs