Varaico: Literature-Extracted Genetic Variants

CRTAC1

69 papers

RefSeq Summary

This gene encodes a glycosylated extracellular matrix protein that is found in the interterritorial matrix of articular deep zone cartilage. This protein is used as a marker to distinguish chondrocyte...

Pfam Domains

FG-GAP_3aa 252–310UCSCFG-GAP-like repeat

FG-GAP_3aa 299–363UCSCFG-GAP-like repeat

UnbV_ASPICaa 452–534UCSCASPIC and UnbV

EGF_CAaa 559–605UCSCCalcium-binding EGF domain

Gene Aliases

HGNC Name

cartilage acidic protein 1

HGNC Alias Symbols

FLJ10320; CEP-68; ASPIC1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_018058.7

p.E658K

c.1972G>A

Surrounding Variants

1 paper

NM_018058.7

p.C657W

c.1971C>G

1 paper

NM_018058.7

p.S656N

c.1967G>A

1 paper

NM_018058.7

p.G607Splc

c.1820-1G>A