Varaico: Literature-Extracted Genetic Variants

Gene:PRG4
Variant:p.K739*

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
5 papers
NM_005807.6
p.K739*
c.2215A>T
Surrounding Variants
2 papers
NM_005807.6
p.E740G
c.2219A>G
1 paper
NM_005807.6
p.T737fs
c.2209_2210fs
1 paper
NM_005807.6
p.T736delFs
c.2208delC
1 paper
NM_005807.6
p.P730L
c.2189C>T
1 paper
NM_005807.6
p.P749delFs
c.2247delC
1 paper
NM_005807.6
p.A750fs
c.2248_2249fs
1 paper
NM_005807.6
p.P754P
c.2262T>C
1 paper
NM_005807.6
p.T757_P765del0
c.2270_2293del24
1 paper
NM_001127710.3
p.P586S
c.1756C>T
1 paper
NM_005807.6
p.K718fs
c.2152_2153fs
3 papers
NM_005807.6
p.K718delFs
c.2153delA
1 paper
NM_005807.6
p.E764K
c.2290G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."