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

2 papers

NM_018058.7

p.A224V

c.671C>T

Surrounding Variants

1 paper

NM_018058.7

p.R190S

c.568C>A

1 paper

NM_018058.7

p.A181A

c.543C>T

2 papers

NM_018058.7

p.R178C

c.532C>T

1 paper

NM_018058.7

p.L174L

c.522C>T

1 paper

NM_018058.7

p.R169H

c.506G>A

1 paper

NM_018058.7

p.A168P

c.502G>C

1 paper

NM_018058.7

p.R156L

c.467G>T

2 papers

NM_018058.7

p.R156W

c.466C>T

1 paper

NM_018058.7

p.N154I

c.461A>T

3 papers

NM_018058.7

p.R153C

c.457C>T

1 paper

NM_018058.7

p.T144T

c.432G>A

1 paper

NM_018058.7

p.G239Splc

c.716-2A>G