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.N264T

c.791A>C

Surrounding Variants

1 paper

NM_001330288.2

p.D262G

c.785A>G

1 paper

NM_001330288.2

p.S267Y

c.800C>A

1 paper

NM_001330288.2

p.R268C

c.802C>T

1 paper

NM_001330288.2

p.R268H

c.803G>A

3 papers

NM_001330288.2

p.R269*

c.805C>T

1 paper

NM_001330288.2

p.D256D

c.768C>T

1 paper

NM_001330288.2

p.E255Q

c.763G>C

1 paper

NM_001330288.2

p.E254K

c.760G>A

1 paper

NM_001330288.2

p.T278A

c.832A>G

1 paper

NM_001330288.2

p.E250K

c.748G>A

1 paper

NM_001330288.2

p.N249K

c.747T>A

2 papers

NM_001330288.2

p.F248S

c.743T>C