Varaico: Literature-Extracted Genetic Variants

Gene:ASPN

ASPN

60 papers

RefSeq Summary

This gene encodes a cartilage extracellular protein that is member of the small leucine-rich proteoglycan family. The encoded protein may regulate chondrogenesis by inhibiting transforming growth fact...

Pfam Domains

LRRNTaa 73–100UCSCLeucine rich repeat N-terminal domain
LRR_8aa 102–165UCSCLeucine rich repeat
LRR_5aa 167–238UCSCBspA type Leucine rich repeat region (6 copies)
LRR_8aa 240–300UCSCLeucine rich repeat

Gene Aliases

HGNC Name

asporin

HGNC Alias Symbols

FLJ20129; SLRR1C; PLAP-1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 56 variants
7 papers
NM_017680.6
p.D50_E51del1
c.150_152delTCA
5 papers
NM_017680.6
p.E51_D52del1
c.153_155delTCC
5 papers
NM_017680.6
p.R153_Y155del3
c.457_464del9
4 papers
NM_017680.6
p.P17_F18delFs
c.51_52delAG
4 papers
NM_017680.6
p.E51ins1
c.152_153insTGA
4 papers
NM_017680.6
p.D52ins1
c.155_156insTGA
4 papers
NM_017680.6
p.R152_R153insTGA
c.454_458ins9
4 papers
NM_017680.6
p.K150_R152del3
c.448_455del9
4 papers
NM_017680.6
p.Y155_L156insTGA
c.463_467ins9
2 papers
NM_017680.6
p.L10P
c.29T>C
2 papers
NM_017680.6
p.P17delFs
c.50_51delGG
2 papers
NM_017680.6
p.E51ins2
c.152_153ins6
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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."