Varaico: Literature-Extracted Genetic Variants

Gene:PRG4
Variant:p.K575E

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.K575E
c.1723A>G
Surrounding Variants
1 paper
NM_005807.6
p.P573T
c.1717C>A
1 paper
NM_005807.6
p.P578S
c.1732C>T
1 paper
NM_005807.6
p.P581T
c.1741C>A
1 paper
NM_005807.6
p.E567delFs
c.1699delG
1 paper
NM_005807.6
p.P584L
c.1751C>T
1 paper
NM_005807.6
p.A585A
c.1755A>G
1 paper
NM_005807.6
p.T564A
c.1690A>G
1 paper
NM_005807.6
p.T563S
c.1687A>T
1 paper
NM_005807.6
p.A561T
c.1681G>A
1 paper
NM_005807.6
p.E559K
c.1675G>A
1 paper
NM_005807.6
p.E591E
c.1773A>G
2 papers
NM_005807.6
p.T557P
c.1669A>C
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