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.L188fs

c.562_563fs

Surrounding Variants

3 papers

NM_001369268.1

p.L188fs

c.562_563fs

4 papers

NM_001369268.1

p.Q187insFs

c.560dupA

1 paper

NM_001369268.1

p.Q187*

c.559C>T

1 paper

NM_001369268.1

p.Q189P

c.566A>C

1 paper

NM_001369268.1

p.E186E

c.558G>A

2 papers

NM_001369268.1

p.A191T

c.571G>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.A183T

c.547G>A

1 paper

NM_001369268.1

p.D194N

c.580G>A

1 paper

NM_001369268.1

p.D194D

c.582C>T

3 papers

NM_001369268.1

p.A180T

c.538G>A