Varaico: Literature-Extracted Genetic Variants

Gene:PRG4
Variant:p.E473A

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.E473A
c.1418A>C
Surrounding Variants
1 paper
NM_005807.6
p.T477_T485del0
c.1431_1454del24
1 paper
NM_005807.6
p.T470P
c.1408A>C
1 paper
NM_005807.6
p.T470A
c.1408A>G
3 papers
NM_005807.6
p.T477T
c.1431C>T
1 paper
NM_005807.6
p.T478A
c.1432A>G
4 papers
NM_005807.6
p.T478_P479del1
c.1434_1436delTCC
1 paper
NM_005807.6
p.A468S
c.1402G>T
1 paper
NM_005807.6
p.T478T
c.1434T>C
6 papers
NM_005807.6
p.P479del1
c.1435_1436delCCC
2 papers
NM_005807.6
p.P479T
c.1435C>A
1 paper
NM_005807.6
p.K480E
c.1438A>G
1 paper
NM_005807.6
p.K480K
c.1440A>G
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