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.E334fs

c.1000_1001fs

Surrounding Variants

1 paper

NM_001330288.2

p.E334*

c.1000G>T

4 papers

NM_001330288.2

p.E333insFs

c.999dupA

1 paper

NM_001330288.2

p.E333G

c.998A>G

1 paper

NM_001330288.2

p.L339L

c.1015C>T

1 paper

NM_001330288.2

p.T340K

c.1019C>A

1 paper

NM_001330288.2

p.K326N

c.978G>T

1 paper

NM_001330288.2

p.K326N

c.978G>C

1 paper

NM_001330288.2

p.D342N

c.1024G>A

1 paper

NM_001330288.2

p.P323S

c.967C>T

1 paper

NM_001330288.2

p.T322A

c.964A>G

1 paper

NM_001330288.2

p.S321L

c.962C>T

1 paper

NM_001330288.2

p.N351S

c.1052A>G