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.E289Q

c.865G>C

Surrounding Variants

1 paper

NM_003074.4

p.N290Y

c.868A>T

1 paper

NM_003074.4

p.Y285delFs

c.854delT

1 paper

NM_003074.4

p.P293T

c.877C>A

1 paper

NM_003074.4

p.D284E

c.852T>G

1 paper

NM_003074.4

p.D284E

c.852T>A

1 paper

NM_003074.4

p.P293L

c.878C>T

1 paper

NM_003074.4

p.D284N

c.850G>A

1 paper

NM_003074.4

p.S295G

c.883A>G

1 paper

NM_003074.4

p.R297C

c.889C>T

1 paper

NM_003074.4

p.R297H

c.890G>A

3 papers

NM_003074.4

p.W279*

c.837G>A

1 paper

NM_003074.4

p.Q298R

c.893A>G