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

4 papers

NM_001330288.2

p.N134D

c.400A>G

Surrounding Variants

2 papers

NM_001330288.2

p.N134S

c.401A>G

1 paper

NM_001330288.2

p.R139*

c.415C>T

1 paper

NM_001330288.2

p.P140S

c.418C>T

1 paper

NM_001330288.2

p.F143delFs

c.429delA

1 paper

NM_001330288.2

p.C145S

c.433T>A

1 paper

NM_001330288.2

p.C145S

c.434G>C

1 paper

NM_001330288.2

p.P146P

c.438A>G

1 paper

NM_001330288.2

p.E149K

c.445G>A

1 paper

NM_001330288.2

p.K151Q

c.451A>C

1 paper

NM_001330288.2

p.L153L

c.459A>T

1 paper

NM_001330288.2

p.G154E

c.461G>A

1 paper

NM_001330288.2

p.K155E

c.463A>G