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.C500G

c.1498T>G

Surrounding Variants

1 paper

NM_001369268.1

p.A499D

c.1496C>A

4 papers

NM_001369268.1

p.R502C

c.1504C>T

3 papers

NM_001369268.1

p.R502P

c.1505G>C

3 papers

NM_001369268.1

p.Q497L

c.1490A>T

2 papers

NM_001369268.1

p.T503K

c.1508C>A

1 paper

NM_001369268.1

p.A505delFs

c.1513delG

1 paper

NM_001369268.1

p.E495G

c.1484A>G

3 papers

NM_001369268.1

p.A505P

c.1513G>C

1 paper

NM_001369268.1

p.F493I

c.1477T>A

1 paper

NM_001369268.1

p.F493delFs

c.1477delT

11 papers

NM_001369268.1

p.S509*

c.1526C>A

1 paper

NM_001369268.1

p.S490L

c.1469C>T