Varaico: Literature-Extracted Genetic Variants

Gene:PRG4
Variant:p.K1047delFs

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
8 papers
NM_005807.6
p.K1047delFs
c.3139_3140delAA
Surrounding Variants
1 paper
NM_005807.6
p.P1046S
c.3136C>T
2 papers
NM_005807.6
p.K1047fs
c.3139_3140fs
5 papers
NM_005807.6
p.R1042_V1043delFs
c.3125_3128del4
1 paper
NM_005807.6
p.T1032insFs
c.3095_3096insT
1 paper
NM_005807.6
p.P1031fs
c.3091_3092fs
1 paper
NM_005807.6
p.K1030_T1032del3
c.3088_3095del9
1 paper
NM_005807.6
p.K1030insFs
c.3090dupA
1 paper
NM_005807.6
p.M1072_N1080delFs
c.3216_3240del25
1 paper
NM_005807.6
p.L1073insFs
c.3218_3219insT
1 paper
NM_005807.6
p.P1019L
c.3056C>T
2 papers
NM_005807.6
p.S1085_L1087insFs
c.3254_3260dup7
1 paper
NM_005807.6
p.Q1081Q
c.3243A>G
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