Varaico: Literature-Extracted Genetic Variants

Gene:PRG4
Variant:p.R180W

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
6 papers
NM_005807.6
p.R180W
c.538C>T
Surrounding Variants
1 paper
NM_005807.6
p.R180Q
c.539G>A
1 paper
NM_005807.6
p.S177_I179delFs
c.531_535del5
1 paper
NM_005807.6
p.S176F
c.527C>T
1 paper
NM_005807.6
p.S175T
c.523T>A
1 paper
NM_005807.6
p.S171Y
c.512C>A
1 paper
NM_005807.6
p.S171T
c.511T>A
1 paper
NM_005807.6
p.S170_S171delFs
c.509_512del4
1 paper
NM_005807.6
p.K199N
c.597A>C
1 paper
NM_005807.6
p.K199N
c.597A>T
3 papers
NM_005807.6
p.T145I
c.434C>T
2 papers
NM_005807.6
p.P139S
c.415C>T
1 paper
NM_005807.6
p.T133S
c.398C>G
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