Varaico: Literature-Extracted Genetic Variants

SMARCC1

159 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 32–165UCSCSWIRM-associated domain at the N-terminal

SWIRMaa 452–537UCSCSWIRM domain

Myb_DNA-bindingaa 620–665UCSCMyb-like DNA-binding domain

SWIRM-assoc_3aa 706–772UCSCSWIRM-associated domain at the C-terminal

SWIRM-assoc_1aa 871–954UCSCSWIRM-associated region 1

Gene Aliases

HGNC Name

SWI/SNF related BAF chromatin remodeling complex subunit C1

HGNC Alias Symbols

BAF155; SRG3; Rsc8; CRACC1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_003074.4

p.P1075L

c.3224C>T

Surrounding Variants

4 papers

NM_003074.4

p.P1075H

c.3224C>A

1 paper

NM_003074.4

p.P1077S

c.3229C>T

1 paper

NM_003074.4

p.P1083L

c.3248C>T

1 paper

NM_003074.4

p.P1083R

c.3248C>G

1 paper

NM_003074.4

p.P1093S

c.3277C>T

1 paper

NM_003074.4

p.P1095R

c.3284C>G

1 paper

NM_003074.4

p.P1095H

c.3284C>A

1 paper

NM_003074.4

p.P1097S

c.3289C>T

1 paper

NM_003074.4

p.G1098R

c.3292G>C

1 paper

NM_003074.4

p.G1098D

c.3293G>A

1 paper

NM_003074.4

p.A1101T

c.3301G>A

1 paper

NM_003074.4

p.G1072_M1073insCT

c.3214_3218ins6