Varaico: Literature-Extracted Genetic Variants

Gene:PRG4
Variant:p.K418Q

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.K418Q
c.1252A>C
Surrounding Variants
1 paper
NM_005807.6
p.T417P
c.1249A>C
1 paper
NM_005807.6
p.T423P
c.1267A>C
1 paper
NM_005807.6
p.T425P
c.1273A>C
4 papers
NM_005807.6
p.T430delFs
c.1290delC
2 papers
NM_005807.6
p.T431fs
c.1291_1292fs
1 paper
NM_005807.6
p.T431fs
c.1291_1292fs
1 paper
NM_005807.6
p.E434insFs
c.1301dupA
2 papers
NM_005807.6
p.T401P
c.1201A>C
1 paper
NM_005807.6
p.T399insFs
c.1197dupC
1 paper
NM_005807.6
p.T399fs
c.1195_1196fs
2 papers
NM_005807.6
p.T399fs
c.1195_1196fs
1 paper
NM_005807.6
p.P398fs
c.1192_1193fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."