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.L180S

c.539T>C

Surrounding Variants

1 paper

NM_003074.4

p.A181T

c.541G>A

1 paper

NM_003074.4

p.K179T

c.536A>C

1 paper

NM_003074.4

p.K179*

c.535A>T

1 paper

NM_003074.4

p.L184F

c.552G>T

1 paper

NM_003074.4

p.L184F

c.552G>C

1 paper

NM_003074.4

p.D186G

c.557A>G

3 papers

NM_003074.4

p.I187T

c.560T>C

1 paper

NM_003074.4

p.L172R

c.515T>G

1 paper

NM_003074.4

p.R190*

c.568C>T

1 paper

NM_003074.4

p.R190Q

c.569G>A

1 paper

NM_003074.4

p.Q192*

c.574C>T

1 paper

NM_003074.4

p.P168L

c.503C>T