Varaico: Literature-Extracted Genetic Variants

Gene:PRG4
Variant:p.Q295delFs

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
5 papers
NM_005807.6
p.Q295delFs
c.884_885delAG
Surrounding Variants
1 paper
NM_005807.6
p.T298N
c.893C>A
1 paper
NM_005807.6
p.T291I
c.872C>T
1 paper
NM_005807.6
p.T290I
c.869C>T
1 paper
NM_005807.6
p.E288insFs
c.863_864insAC
1 paper
NM_005807.6
p.T286T
c.858T>C
1 paper
NM_005807.6
p.V284fs
c.850_851fs
1 paper
NM_005807.6
p.S306S
c.918C>T
1 paper
NM_005807.6
p.T283delFs
c.849delA
1 paper
NM_005807.6
p.T283fs
c.847_848fs
3 papers
NM_005807.6
p.T283P
c.847A>C
5 papers
NM_005807.6
p.K308delFs
c.923_924delAA
2 papers
NM_005807.6
p.K308Q
c.922A>C
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