Varaico: Literature-Extracted Genetic Variants

Gene:PRG4
Variant:p.K718delFs

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.K718delFs
c.2153delA
Surrounding Variants
1 paper
NM_005807.6
p.K718fs
c.2152_2153fs
1 paper
NM_001127710.3
p.P586S
c.1756C>T
1 paper
NM_005807.6
p.A705V
c.2114C>T
1 paper
NM_005807.6
p.P730L
c.2189C>T
1 paper
NM_005807.6
p.T704P
c.2110A>C
1 paper
NM_005807.6
p.E703G
c.2108A>G
1 paper
NM_005807.6
p.T736delFs
c.2208delC
1 paper
NM_005807.6
p.T737fs
c.2209_2210fs
1 paper
NM_005807.6
p.A697V
c.2090C>T
5 papers
NM_005807.6
p.K739*
c.2215A>T
1 paper
NM_005807.6
p.P696T
c.2086C>A
2 papers
NM_005807.6
p.E740G
c.2219A>G
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