Varaico: Literature-Extracted Genetic Variants

Gene:PRG4

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
1–12 of 312 variants
8 papers
NM_005807.6
p.K1047delFs
c.3139_3140delAA
7 papers
NM_005807.6
p.K939delFs
c.2816_2817delAA
6 papers
NM_005807.6
p.R180W
c.538C>T
6 papers
NM_005807.6
p.P440insFs
c.1320dupC
6 papers
NM_005807.6
p.P479del1
c.1435_1436delCCC
6 papers
NM_005807.6
p.P637delFs
c.1910_1911delCT
6 papers
NM_005807.6
p.P1092_K1093delFs
c.3276_3277delAA
5 papers
NM_005807.6
p.Q295delFs
c.884_885delAG
5 papers
NM_005807.6
p.K308delFs
c.923_924delAA
5 papers
NM_005807.6
p.P398delFs
c.1194delC
5 papers
NM_005807.6
p.P661delFs
c.1982_1983delCT
5 papers
NM_005807.6
p.K739*
c.2215A>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."