Varaico: Literature-Extracted Genetic Variants

Gene:PRG4
Variant:p.K457N

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.K457N
c.1371G>T
Surrounding Variants
2 papers
NM_005807.6
p.T460A
c.1378A>G
1 paper
NM_005807.6
p.P461T
c.1381C>A
1 paper
NM_005807.6
p.A468S
c.1402G>T
1 paper
NM_005807.6
p.T470P
c.1408A>C
1 paper
NM_005807.6
p.T470A
c.1408A>G
1 paper
NM_005807.6
p.T477_T485del0
c.1431_1454del24
1 paper
NM_005807.6
p.E473A
c.1418A>C
1 paper
NM_005807.6
p.K442E
c.1324A>G
1 paper
NM_005807.6
p.K441E
c.1321A>G
1 paper
NM_005807.6
p.P440T
c.1318C>A
1 paper
NM_005807.6
p.P440fs
c.1318_1319fs
7 papers
NM_005807.6
p.P440insFs
c.1320dupC
NM_001127708.3
p.P399insFs
c.1197dupC
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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."