Varaico: Literature-Extracted Genetic Variants

ACAN

521 papers

RefSeq Summary

This gene is a member of the aggrecan/versican proteoglycan family. The encoded protein is an integral part of the extracellular matrix in cartilagenous tissue and it withstands compression in cartila...

Pfam Domains

V-setaa 34–151UCSCImmunoglobulin V-set domain

Xlinkaa 153–247UCSCExtracellular link domain

Xlinkaa 254–349UCSCExtracellular link domain

Xlinkaa 478–572UCSCExtracellular link domain

Xlinkaa 579–674UCSCExtracellular link domain

EGFaa 2282–2312UCSCEGF-like domain

Gene Aliases

HGNC Name

aggrecan

HGNC Previous Symbols

MSK16; CSPG1; AGC1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001369268.1

p.C51insFs

c.151_152ins10

Surrounding Variants

1 paper

NM_001369268.1

p.C51R

c.151T>C

8 papers

NM_001369268.1

p.C51G

c.151T>G

1 paper

NM_001369268.1

p.C51fs

c.151_152fs

1 paper

NM_001369268.1

p.P50S

c.148C>T

1 paper

NM_001369268.1

p.I49N

c.146T>A

1 paper

NM_001369268.1

p.D55insFs

c.164_165insA

1 paper

NM_001369268.1

p.P56R

c.167C>G

1 paper

NM_001369268.1

p.P56L

c.167C>T

1 paper

NM_001369268.1

p.T45I

c.134C>T

1 paper

NM_001369268.1

p.G44R

c.130G>A

1 paper

NM_001369268.1

p.G44R

c.130G>C

1 paper

NM_001369268.1

p.P59L

c.176C>T