Varaico: Literature-Extracted Genetic Variants

Gene:PRG4
Variant:p.K918_T920delFs

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
3 papers
NM_005807.6
p.K918_T920delFs
c.2754_2758del5
Surrounding Variants
1 paper
NM_005807.6
p.K918fs
c.2752_2753fs
2 papers
NM_005807.6
p.K918fs
c.2752_2753fs
1 paper
NM_005807.6
p.E921_R922delFs
c.2763_2766del4
1 paper
NM_005807.6
p.R922fs
c.2764_2765fs
1 paper
NM_005807.6
p.D923_L924del2
c.2767_2771del6
1 paper
NM_005807.6
p.P909_E910delFs
c.2726_2729del4
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.T930I
c.2789C>T
2 papers
NM_001127710.3
p.T767A
c.2299A>G
7 papers
NM_005807.6
p.K939delFs
c.2816_2817delAA
2 papers
NM_005807.6
p.K939fs
c.2815_2816fs
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