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.K891fs

c.2671_2672fs

Surrounding Variants

2 papers

NM_003074.4

p.K891delFs

c.2672delT

1 paper

NM_003074.4

p.K891fs

c.2671_2672fs

1 paper

NM_003074.4

p.L898_L899delins

c.2693_2696delinsC

1 paper

NM_003074.4

p.L911L

c.2733T>C

1 paper

NM_003074.4

p.R912*

c.2734C>T

1 paper

NM_003074.4

p.R912Q

c.2735G>A

1 paper

NM_003074.4

p.L917L

c.2751G>A