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

5 papers

NM_017680.6

p.R153_Y155del3

c.457_464del9

Surrounding Variants

1 paper

NM_017680.6

p.L156_S157insTGA

c.466_470ins9

1 paper

NM_017680.6

p.T147_Y155del9

c.439_464del27

4 papers

NM_017680.6

p.Y155_L156insTGA

c.463_467ins9

1 paper

NM_017680.6

p.R153K

c.458G>A

4 papers

NM_017680.6

p.K150_R152del3

c.448_455del9

1 paper

NM_017680.6

p.R152*

c.454C>T

4 papers

NM_017680.6

p.R152_R153insTGA

c.454_458ins9

1 paper

NM_017680.6

p.R152_R153ins5

c.454_458ins15

2 papers

NM_017680.6

p.R152_R153ins6

c.454_458ins18

2 papers

NM_017680.6

p.R152_R153ins9

c.454_458ins27

1 paper

NM_017680.6

p.R152_R153ins15

c.454_458ins45

1 paper

NM_017680.6

p.K149_K150insTGA

c.445_449ins9