Varaico: Literature-Extracted Genetic Variants

Gene:PRG4
Variant:p.S1085_L1087del3

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.S1085_L1087del3
c.3253_3260del9
Surrounding Variants
1 paper
NM_005807.6
p.P1083S
c.3247C>T
1 paper
NM_005807.6
p.Q1081Q
c.3243A>G
1 paper
NM_005807.6
p.V1088fs
c.3262_3263fs
2 papers
NM_005807.6
p.S1085_L1087insFs
c.3254_3260dup7
6 papers
NM_005807.6
p.P1092_K1093delFs
c.3276_3277delAA
1 paper
NM_005807.6
p.K1093fs
c.3277_3278fs
1 paper
NM_005807.6
p.L1073insFs
c.3218_3219insT
1 paper
NM_005807.6
p.M1072_N1080delFs
c.3216_3240del25
1 paper
NM_005807.6
p.P1111S
c.3331C>T
2 papers
NM_005807.6
p.K1047fs
c.3139_3140fs
8 papers
NM_005807.6
p.K1047delFs
c.3139_3140delAA
1 paper
NM_005807.6
p.D1123insFs
c.3368_3369insT
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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."