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

3 papers

NM_001330288.2

p.D381E

c.1143T>G

Surrounding Variants

3 papers

NM_001330288.2

p.D381E

c.1143T>A

1 paper

NM_001330288.2

p.Q383K

c.1147C>A

1 paper

NM_001330288.2

p.E386K

c.1156G>A

1 paper

NM_001330288.2

p.E389fs

c.1165_1166fs

2 papers

NM_001330288.2

p.K393_D394Splc

c.1179+2T>A

1 paper

NM_001330288.2

p.D379V

c.1136A>T

1 paper

NM_001330288.2

p.D379N

c.1135G>A

5 papers

NM_001330288.2

p.K365_D366delFs

c.1094_1097del4

1 paper

NM_001330288.2

p.K365fs

c.1093_1094fs

1 paper

NM_001330288.2

p.K364del1

c.1090_1091delCTT

4 papers

NM_001330288.2

p.K364delFs

c.1092delC

3 papers

NM_001330288.2

p.K365fs

c.1093_1094fs