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

5 papers

NM_001369268.1

p.W301*

c.903G>A

Surrounding Variants

14 papers

NM_001369268.1

p.W301C

c.903G>C

13 papers

NM_001369268.1

p.W301C

c.903G>T

4 papers

NM_001369268.1

p.W301*

c.902G>A

1 paper

NM_001369268.1

p.A303T

c.907G>A

3 papers

NM_001369268.1

p.D304N

c.910G>A

1 paper

NM_001369268.1

p.D304A

c.911A>C

11 papers

NM_001369268.1

p.S306C

c.916A>T

2 papers

NM_001369268.1

p.R308R

c.924C>G

1 paper

NM_001369268.1

p.G293S

c.877G>A

1 paper

NM_001369268.1

p.I311insFs

c.931_932ins4

2 papers

NM_001369268.1

p.Q291*

c.871C>T

1 paper

NM_001369268.1

p.A289T

c.865G>A