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

1–12 of 950 variants

15 papers

NM_001369268.1

p.G676Splc

c.2026+1G>A

14 papers

NM_001369268.1

p.W301C

c.903G>C

14 papers

NM_001369268.1

p.Y536*

c.1608C>A

13 papers

NM_001369268.1

p.E91delFs

c.273delA

13 papers

NM_001369268.1

p.W301C

c.903G>T

13 papers

NM_001369268.1

p.Y536*

c.1608C>G

12 papers

NM_001369268.1

p.Y164*

c.492C>G

12 papers

NM_001369268.1

p.N178Y

c.532A>T

11 papers

NM_001369268.1

p.W75R

c.223T>C

11 papers

NM_001369268.1

p.Y164*

c.492C>A

11 papers

NM_001369268.1

p.S306C

c.916A>T

11 papers

NM_001369268.1

p.S509*

c.1526C>A