Varaico: Literature-Extracted Genetic Variants

SMARCC2

193 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 4–137UCSCSWIRM-associated domain at the N-terminal

SWIRMaa 427–512UCSCSWIRM domain

Myb_DNA-bindingaa 598–643UCSCMyb-like DNA-binding domain

SWIRM-assoc_3aa 684–750UCSCSWIRM-associated domain at the C-terminal

SWIRM-assoc_1aa 863–946UCSCSWIRM-associated region 1

Gene Aliases

HGNC Name

SWI/SNF related BAF chromatin remodeling complex subunit C2

HGNC Alias Symbols

BAF170; Rsc8; CRACC2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001330288.2

p.Q200L

c.599A>T

Surrounding Variants

1 paper

NM_001330288.2

p.V201I

c.601G>A

1 paper

NM_001330288.2

p.L202V

c.604C>G

1 paper

NM_001330288.2

p.R197K

c.590G>A

1 paper

NM_001330288.2

p.L203L

c.609G>T

1 paper

NM_001330288.2

p.W205R

c.613T>C

1 paper

NM_001330288.2

p.V194I

c.580G>A

1 paper

NM_001330288.2

p.Y208C

c.623A>G

6 papers

NM_001330288.2

p.R192*

c.574C>T

1 paper

NM_001330288.2

p.V191fs

c.571_572fs

1 paper

NM_001330288.2

p.E189delFs

c.565delC

1 paper

NM_001330288.2

p.E187D

c.561A>T

1 paper

NM_001330288.2

p.G183W

c.547G>T