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.H423H

c.1269C>T

Surrounding Variants

1 paper

NM_001330288.2

p.I425S

c.1274T>G

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

1 paper

NM_001330288.2

p.V417M

c.1249G>A

1 paper

NM_001330288.2

p.D415N

c.1243G>A

1 paper

NM_001330288.2

p.T407S

c.1220C>G

1 paper

NM_001330288.2

p.N398_N402delFs

c.1193_1206del14

1 paper

NM_001330288.2

p.T400M

c.1199C>T

1 paper

NM_001330288.2

p.E397E

c.1191G>A

6 papers

NM_001330288.2

p.S437Splc

c.1311-3C>G

3 papers

NM_001330288.2

p.S437Splc

c.1311-1G>A