Varaico: Literature-Extracted Genetic Variants

Gene:PRG4
Variant:p.K939delFs

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
7 papers
NM_005807.6
p.K939delFs
c.2816_2817delAA
Surrounding Variants
2 papers
NM_005807.6
p.K939fs
c.2815_2816fs
1 paper
NM_005807.6
p.T944insFs
c.2830_2831insT
1 paper
NM_005807.6
p.T944insFs
c.2831_2832insT
1 paper
NM_005807.6
p.E946fs
c.2836_2837fs
1 paper
NM_005807.6
p.E946delFs
c.2837_2838delAA
1 paper
NM_005807.6
p.T930I
c.2789C>T
1 paper
NM_005807.6
p.K947fs
c.2839_2840fs
1 paper
NM_005807.6
p.E950K
c.2848G>A
1 paper
NM_005807.6
p.E950V
c.2849A>T
1 paper
NM_005807.6
p.R925H
c.2774G>A
1 paper
NM_005807.6
p.R925L
c.2774G>T
1 paper
NM_005807.6
p.I953_T954delFs
c.2859_2860delAA
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