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.V479insFs

c.1435dupG

Surrounding Variants

5 papers

NM_001369268.1

p.V478fs

c.1432_1433fs

9 papers

NM_001369268.1

p.V478fs

c.1432_1433fs

1 paper

NM_001369268.1

p.G477Splc

c.1430-5C>T

1 paper

NM_001369268.1

p.R488H

c.1463G>A

1 paper

NM_001369268.1

p.Y489H

c.1465T>C

5 papers

NM_001369268.1

p.Y489*

c.1467C>A

5 papers

NM_001369268.1

p.Y489*

c.1467C>G

1 paper

NM_001369268.1

p.S490L

c.1469C>T

1 paper

NM_001369268.1

p.F493delFs

c.1477delT

1 paper

NM_001369268.1

p.F493I

c.1477T>A

1 paper

NM_001369268.1

p.E495G

c.1484A>G

3 papers

NM_001369268.1

p.Q497L

c.1490A>T