Varaico: Literature-Extracted Genetic Variants

Gene:PRG4
Variant:p.I129delFs

PRG4

202 papers

RefSeq Summary

The protein encoded by this gene is a large proteoglycan that is synthesized by chondrocytes located at the surface of articular cartilage and by some synovial lining cells. This protein contains both...

Pfam Domains

Somatomedin_Baa 28–67UCSCSomatomedin B domain
Somatomedin_Baa 68–107UCSCSomatomedin B domain
Hemopexinaa 1195–1240UCSCHemopexin

Gene Aliases

HGNC Name

proteoglycan 4

HGNC Previous Symbol

CACP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005807.6
p.I129delFs
c.385_386delAT
Surrounding Variants
1 paper
NM_005807.6
p.Q127insFs
c.379_380ins10
1 paper
NM_005807.6
p.S126S
c.378T>A
1 paper
NM_005807.6
p.A125del1
c.373_375delGCA
1 paper
NM_005807.6
p.T133S
c.398C>G
1 paper
NM_005807.6
p.P121delFs
c.362_363delCA
2 papers
NM_005807.6
p.P139S
c.415C>T
1 paper
NM_005807.6
p.S115delFs
c.344delC
3 papers
NM_005807.6
p.T145I
c.434C>T
1 paper
NM_005807.6
p.S170_S171delFs
c.509_512del4
1 paper
NM_005807.6
p.S171T
c.511T>A
1 paper
NM_005807.6
p.S171Y
c.512C>A
1 paper
NM_005807.6
p.S175T
c.523T>A
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