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

3 papers

NM_001369268.1

p.A180T

c.538G>A

Surrounding Variants

1 paper

NM_001369268.1

p.S179C

c.535A>T

1 paper

NM_001369268.1

p.N178K

c.534C>A

1 paper

NM_001369268.1

p.N178K

c.534C>G

1 paper

NM_001369268.1

p.N178insFs

c.533_534insG

12 papers

NM_001369268.1

p.N178Y

c.532A>T

1 paper

NM_001369268.1

p.A183T

c.547G>A

2 papers

NM_001369268.1

p.T184M

c.551C>T

1 paper

NM_001369268.1

p.P185_L188del0

c.553_564del12

1 paper

NM_001369268.1

p.C175_L176insFs

c.525_526insC

1 paper

NM_001369268.1

p.C175F

c.524G>T

1 paper

NM_001369268.1

p.E186E

c.558G>A

4 papers

NM_001369268.1

p.Q187insFs

c.560dupA