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.F556insFs

c.1668dupT

Surrounding Variants

1 paper

NM_003074.4

p.V558L

c.1672G>T

1 paper

NM_003074.4

p.V558L

c.1672G>C

1 paper

NM_003074.4

p.H555H

c.1665T>C

1 paper

NM_003074.4

p.P563S

c.1687C>T

1 paper

NM_003074.4

p.L566F

c.1696C>T

1 paper

NM_003074.4

p.M546V

c.1636A>G

1 paper

NM_003074.4

p.P568P

c.1704T>C

1 paper

NM_003074.4

p.L569M

c.1705C>A

1 paper

NM_003074.4

p.R544T

c.1631G>C

1 paper

NM_003074.4

p.R572*

c.1714C>T

1 paper

NM_003074.4

p.P541L

c.1622C>T

4 papers

NM_003074.4

p.Q575*

c.1723C>T