Varaico: Literature-Extracted Genetic Variants

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

Selected Variant

1 paper

NM_017680.6

p.D39E

c.117T>G

Surrounding Variants

1 paper

NM_017680.6

p.D39E

c.117T>A

1 paper

NM_017680.6

p.D44H

c.130G>C

1 paper

NM_017680.6

p.D44N

c.130G>A

1 paper

NM_017680.6

p.E35Q

c.103G>C

1 paper

NM_017680.6

p.D44A

c.131A>C

1 paper

NM_017680.6

p.D50ins1

c.149_150insTGA

1 paper

NM_017680.6

p.E51_D52insDDD

c.151_155ins9

1 paper

NM_017680.6

p.E51insFs

c.152_153ins5

4 papers

NM_017680.6

p.E51ins1

c.152_153insTGA

2 papers

NM_017680.6

p.E51ins2

c.152_153ins6

2 papers

NM_017680.6

p.E51ins3

c.152_153ins9

1 paper

NM_017680.6

p.E51ins5

c.152_153ins15