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

3 papers

NM_003074.4

p.V57fs

c.169_170fs

Surrounding Variants

1 paper

NM_003074.4

p.V57delFs

c.170delA

1 paper

NM_003074.4

p.V57fs

c.169_170fs

1 paper

NM_003074.4

p.R56W

c.166C>T

1 paper

NM_003074.4

p.K61N

c.183G>T

1 paper

NM_003074.4

p.K61N

c.183G>C

1 paper

NM_003074.4

p.H62R

c.185A>G

1 paper

NM_003074.4

p.L52L

c.156G>C

1 paper

NM_003074.4

p.S50S

c.150C>T

1 paper

NM_003074.4

p.T48T

c.144G>A

1 paper

NM_003074.4

p.E47*

c.139G>T

1 paper

NM_003074.4

p.P46Q

c.137C>A

1 paper

NM_003074.4

p.E44E

c.132G>A