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

1–12 of 319 variants

7 papers

NM_003074.4

p.H526P

c.1577A>C

4 papers

NM_003074.4

p.T415fs

c.1243_1244fs

4 papers

NM_003074.4

p.R524Splc

c.1571+1G>A

4 papers

NM_003074.4

p.Q575*

c.1723C>T

4 papers

NM_003074.4

p.R652C

c.1954C>T

4 papers

NM_003074.4

p.Q742R

c.2225A>G

4 papers

NM_003074.4

p.A747T

c.2239G>A

4 papers

NM_003074.4

p.K891fs

c.2671_2672fs

4 papers

NM_003074.4

p.P1075H

c.3224C>A

3 papers

NM_003074.4

p.V57fs

c.169_170fs

3 papers

NM_003074.4

p.I187T

c.560T>C

3 papers

NM_003074.4

p.W279*

c.836G>A