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

5 papers

NM_001330288.2

p.Q58*

c.172C>T

Surrounding Variants

1 paper

NM_001330288.2

p.Q55R

c.164A>G

1 paper

NM_001330288.2

p.V53A

c.158T>C

1 paper

NM_001330288.2

p.L52L

c.156G>C

1 paper

NM_001330288.2

p.S48P

c.142T>C

1 paper

NM_001330288.2

p.N46S

c.137A>G

1 paper

NM_001330288.2

p.N70S

c.209A>G

1 paper

NM_001330288.2

p.A71A

c.213A>G

1 paper

NM_001330288.2

p.P72R

c.215C>G

1 paper

NM_001330288.2

p.P72P

c.216G>A

1 paper

NM_001330288.2

p.P43S

c.127C>T

1 paper

NM_001330288.2

p.T74T

c.222T>C

1 paper

NM_001330288.2

p.Q40H

c.120A>T