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.L529V

c.1585T>G

Surrounding Variants

7 papers

NM_003074.4

p.H526P

c.1577A>C

1 paper

NM_003074.4

p.G533R

c.1597G>A

1 paper

NM_003074.4

p.L534_V535insFs

c.1602_1603ins11

1 paper

NM_003074.4

p.V535fs

c.1603_1604fs

3 papers

NM_003074.4

p.V535fs

c.1603_1604fs

1 paper

NM_003074.4

p.Q538H

c.1614A>T

1 paper

NM_003074.4

p.Q538H

c.1614A>C

1 paper

NM_003074.4

p.P541L

c.1622C>T

1 paper

NM_003074.4

p.R544T

c.1631G>C

1 paper

NM_003074.4

p.M546V

c.1636A>G

1 paper

NM_003074.4

p.H555H

c.1665T>C

1 paper

NM_003074.4

p.F556insFs

c.1668dupT