Varaico: Literature-Extracted Genetic Variants

Gene:PRG4
Variant:p.P1019L

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.P1019L
c.3056C>T
Surrounding Variants
1 paper
NM_005807.6
p.K1030insFs
c.3090dupA
1 paper
NM_005807.6
p.K1030_T1032del3
c.3088_3095del9
1 paper
NM_005807.6
p.P1031fs
c.3091_3092fs
1 paper
NM_005807.6
p.T1032insFs
c.3095_3096insT
2 papers
NM_005807.6
p.K1000_P1001delFs
c.2998_3001del4
5 papers
NM_005807.6
p.R1042_V1043delFs
c.3125_3128del4
1 paper
NM_005807.6
p.P1046S
c.3136C>T
8 papers
NM_005807.6
p.K1047delFs
c.3139_3140delAA
2 papers
NM_005807.6
p.K1047fs
c.3139_3140fs
1 paper
NM_005807.6
p.L981F
c.2941C>T
1 paper
NM_005807.6
p.I973T
c.2918T>C
1 paper
NM_005807.6
p.M1072_N1080delFs
c.3216_3240del25
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."