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

2 papers

NM_001369268.1

p.R668Q

c.2003G>A

Surrounding Variants

6 papers

NM_001369268.1

p.R675*

c.2023C>T

8 papers

NM_001369268.1

p.T660M

c.1979C>T

15 papers

NM_001369268.1

p.G676Splc

c.2026+1G>A

1 paper

NM_001369268.1

p.N658S

c.1973A>G

2 papers

NM_001369268.1

p.Y656*

c.1968C>A

2 papers

NM_001369268.1

p.Y656*

c.1968C>G

1 paper

NM_001369268.1

p.Y656C

c.1967A>G

1 paper

NM_001369268.1

p.T652M

c.1955C>T

1 paper

NM_001369268.1

p.V650V

c.1950G>C

1 paper

NM_001369268.1

p.V650V

c.1950G>T

7 papers

NM_001369268.1

p.V650M

c.1948G>A

9 papers

NM_001369268.1

p.G644S

c.1930G>A