Varaico: Literature-Extracted Genetic Variants

Gene:PRG4
Variant:p.D269D

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
1 paper
NM_005807.6
p.D269D
c.807T>C
Surrounding Variants
1 paper
NM_005807.6
p.D269G
c.806A>G
2 papers
NM_005807.6
p.N267H
c.799A>C
1 paper
NM_005807.6
p.K272I
c.815A>T
1 paper
NM_005807.6
p.E273K
c.817G>A
1 paper
NM_005807.6
p.T274T
c.822G>A
1 paper
NM_005807.6
p.S275C
c.824C>G
1 paper
NM_005807.6
p.L276L
c.828G>A
1 paper
NM_005807.6
p.P260S
c.778C>T
1 paper
NM_005807.6
p.I258_L264delFs
c.772_790del19
1 paper
NM_005807.6
p.T283fs
c.847_848fs
3 papers
NM_005807.6
p.T283P
c.847A>C
1 paper
NM_005807.6
p.T283delFs
c.849delA
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."