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

1–12 of 64 variants

4 papers

NM_018058.7

p.R378C

c.1132C>T

3 papers

NM_018058.7

p.R153C

c.457C>T

3 papers

NM_018058.7

p.R378C

c.1132C>T

3 papers

NM_018058.7

p.E658K

c.1972G>A

2 papers

NM_018058.7

p.R30Q

c.89G>A

2 papers

NM_018058.7

p.R156W

c.466C>T

2 papers

NM_018058.7

p.R178C

c.532C>T

2 papers

NM_018058.7

p.A224V

c.671C>T

2 papers

NM_018058.7

p.R436W

c.1306C>T

2 papers

NM_018058.7

p.A472S

c.1414G>T

1 paper

NM_018058.7

p.P7S

c.19C>T

1 paper

NM_018058.7

p.G57D

c.170G>A