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

1 paper

NM_018058.7

p.V243I

c.727G>A

Surrounding Variants

1 paper

NM_018058.7

p.V245M

c.733G>A

1 paper

NM_018058.7

p.G239Splc

c.716-2A>G

1 paper

NM_018058.7

p.H269R

c.806A>G

1 paper

NM_018058.7

p.R271W

c.811C>T

1 paper

NM_018058.7

p.A280E

c.839C>A

1 paper

NM_018058.7

p.R293Q

c.878G>A

1 paper

NM_018058.7

p.R332Q

c.995G>A

1 paper

NM_018058.7

p.R346C

c.1036C>T

1 paper

NM_018058.7

p.T347M

c.1040C>T

1 paper

NM_018058.7

p.S372S

c.1116A>C

3 papers

NM_018058.7

p.R378C

c.1132C>T

2 papers

NM_018058.7

p.A224V

c.671C>T