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

1–12 of 377 variants

8 papers

NM_001330288.2

p.R519*

c.1555C>T

7 papers

NM_001330288.2

p.W241*

c.722G>A

7 papers

NM_001330288.2

p.W241*

c.723G>A

6 papers

NM_001330288.2

p.R192*

c.574C>T

6 papers

NM_001330288.2

p.S437Splc

c.1311-3C>G

5 papers

NM_001330288.2

p.Q58*

c.172C>T

5 papers

NM_001330288.2

p.Y109*

c.327C>G

5 papers

NM_001330288.2

p.E334fs

c.1000_1001fs

5 papers

NM_001330288.2

p.K365_D366delFs

c.1094_1097del4

5 papers

NM_001330288.2

p.M1092del1

c.3274_3275delCAT

4 papers

NM_001330288.2

p.Y109*

c.327C>A

4 papers

NM_001330288.2

p.N134D

c.400A>G