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_003075.5

p.P1094_I1097del4

c.3280_3290del12

Surrounding Variants

1 paper

NM_001330288.2

p.D1135delFs

c.3403delC

1 paper

NM_003075.5

p.A1093delFs

c.3279delA

1 paper

NM_003075.5

p.P1094fs

c.3280_3281fs

2 papers

NM_001330288.2

p.P1123del1

c.3367_3369delAGG

1 paper

NM_001330288.2

p.P1109_P1122del0

c.3327_3365del39

1 paper

NM_001330288.2

p.H1152_H1153del1

c.3456_3458delTGG

1 paper

NM_001330288.2

p.T1160A

c.3478A>G

4 papers

NM_001330288.2

p.G1094_P1097del4

c.3280_3290del12

1 paper

NM_001330288.2

p.G1098D

c.3293G>A

1 paper

NM_001330288.2

p.G1098R

c.3292G>C

1 paper

NM_001330288.2

p.A1095E

c.3284C>A

1 paper

NM_001330288.2

p.N1165S

c.3494A>G