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.P525L

c.1574C>T

Surrounding Variants

1 paper

NM_001330288.2

p.G524R

c.1570G>C

1 paper

NM_001330288.2

p.P526P

c.1578G>A

1 paper

NM_001330288.2

p.G524R

c.1570G>A

1 paper

NM_001330288.2

p.P527A

c.1579C>G

1 paper

NM_001330288.2

p.T528S

c.1583C>G

1 paper

NM_001330288.2

p.P520S

c.1558C>T

8 papers

NM_001330288.2

p.R519*

c.1555C>T

1 paper

NM_001330288.2

p.V533I

c.1597G>A

1 paper

NM_001330288.2

p.T537I

c.1610C>T

1 paper

NM_001330288.2

p.Q513*

c.1537C>T

1 paper

NM_001330288.2

p.L509F

c.1525C>T

1 paper

NM_001330288.2

p.G508A

c.1523G>C