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.P553_T564del12

c.1657_1691del36

Surrounding Variants

1 paper

NM_001369268.1

p.S551C

c.1651A>T

1 paper

NM_001369268.1

p.V546V

c.1638G>C

1 paper

NM_001369268.1

p.V546_G554insFs

c.1638_1660dup23

1 paper

NM_001369268.1

p.C545fs

c.1633_1634fs

1 paper

NM_001369268.1

p.P544insFs

c.1631dupC

1 paper

NM_001369268.1

p.S563fs

c.1687_1688fs

1 paper

NM_001369268.1

p.S563*

c.1688C>A

1 paper

NM_001369268.1

p.S563*

c.1688C>G

1 paper

NM_001369268.1

p.R542W

c.1624C>T

3 papers

NM_001369268.1

p.P541P

c.1623C>A

1 paper

NM_001369268.1

p.T564A

c.1690A>G

1 paper

NM_001369268.1

p.P541H

c.1622C>A