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.G319A

c.956G>C

Surrounding Variants

1 paper

NM_001369268.1

p.G319C

c.955G>T

1 paper

NM_001369268.1

p.L322P

c.965T>C

1 paper

NM_001369268.1

p.R315_N317delins

c.945_949delinsTACATCTTCTAATG

2 papers

NM_001369268.1

p.R315W

c.943C>T

1 paper

NM_001369268.1

p.R326W

c.976A>T

1 paper

NM_001369268.1

p.I311insFs

c.931_932ins4

1 paper

NM_001369268.1

p.V328I

c.982G>A

2 papers

NM_001369268.1

p.Y329N

c.985T>A

2 papers

NM_001369268.1

p.R308R

c.924C>G

1 paper

NM_001369268.1

p.V330M

c.988G>A

11 papers

NM_001369268.1

p.S306C

c.916A>T

1 paper

NM_001369268.1

p.N333D

c.997A>G