Varaico: Literature-Extracted Genetic Variants

Gene:PRG4
Variant:p.T540T

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.T540T
c.1620C>A
Surrounding Variants
1 paper
NM_005807.6
p.T542P
c.1624A>C
1 paper
NM_005807.6
p.T534A
c.1600A>G
1 paper
NM_005807.6
p.K550_S553del0
c.1649_1657del9
1 paper
NM_005807.6
p.P531_K535del5
c.1591_1604del15
1 paper
NM_005807.6
p.S553A
c.1657T>G
2 papers
NM_005807.6
p.T557P
c.1669A>C
1 paper
NM_005807.6
p.P562_A569del0
c.1684_1707del24
1 paper
NM_005807.6
p.E559K
c.1675G>A
1 paper
NM_005807.6
p.T526_T533del0
c.1578_1598del21
1 paper
NM_005807.6
p.A561T
c.1681G>A
1 paper
NM_005807.6
p.T563S
c.1687A>T
1 paper
NM_005807.6
p.T518I
c.1553C>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."