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.L446V

c.1336C>G

Surrounding Variants

1 paper

NM_001330288.2

p.R443Q

c.1328G>A

3 papers

NM_001330288.2

p.R443W

c.1327C>T

1 paper

NM_001330288.2

p.N451I

c.1352A>T

1 paper

NM_001330288.2

p.G452A

c.1355G>C

1 paper

NM_001330288.2

p.N454D

c.1360A>G

3 papers

NM_001330288.2

p.S437Splc

c.1311-1G>A

6 papers

NM_001330288.2

p.S437Splc

c.1311-3C>G

1 paper

NM_001330288.2

p.I425S

c.1274T>G

1 paper

NM_001330288.2

p.H423H

c.1269C>T

1 paper

NM_001330288.2

p.Q420insFs

c.1259dupA

1 paper

NM_001330288.2

p.Q420delFs

c.1259delT

1 paper

NM_001330288.2

p.V417L

c.1249G>T