Varaico: Literature-Extracted Genetic Variants

Gene:PRG4
Variant:p.E647G

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
2 papers
NM_005807.6
p.E647G
c.1940A>G
Surrounding Variants
1 paper
NM_005807.6
p.E646fs
c.1936_1937fs
1 paper
NM_005807.6
p.A649T
c.1945G>A
1 paper
NM_005807.6
p.P645delFs
c.1935delT
1 paper
NM_005807.6
p.P656L
c.1967C>T
1 paper
NM_005807.6
p.E638fs
c.1912_1913fs
2 papers
NM_005807.6
p.T657A
c.1969A>G
3 papers
NM_005807.6
p.P637delFs
c.1911delT
1 paper
NM_005807.6
p.P637fs
c.1909_1910fs
6 papers
NM_005807.6
p.P637delFs
c.1910_1911delCT
1 paper
NM_005807.6
p.P637fs
c.1909_1910fs
1 paper
NM_005807.6
p.T636insFs
c.1906_1907insC
1 paper
NM_005807.6
p.P661fs
c.1981_1982fs
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