Varaico: Literature-Extracted Genetic Variants

Gene:PRG4
Variant:p.K308Q

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.K308Q
c.922A>C
Surrounding Variants
5 papers
NM_005807.6
p.K308delFs
c.923_924delAA
1 paper
NM_005807.6
p.S306S
c.918C>T
1 paper
NM_005807.6
p.E309E
c.927G>A
1 paper
NM_005807.6
p.S317F
c.950C>T
1 paper
NM_005807.6
p.T298N
c.893C>A
1 paper
NM_005807.6
p.D320N
c.958G>A
5 papers
NM_005807.6
p.Q295delFs
c.884_885delAG
1 paper
NM_005807.6
p.L321*
c.962T>A
1 paper
NM_005807.6
p.L321*
c.962T>G
1 paper
NM_005807.6
p.P323P
c.969C>T
2 papers
NM_005807.6
p.T324P
c.970A>C
1 paper
NM_005807.6
p.T291I
c.872C>T
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