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.E518K

c.1552G>A

Surrounding Variants

2 papers

NM_001369268.1

p.Y517*

c.1551C>A

2 papers

NM_001369268.1

p.Y517*

c.1551C>G

1 paper

NM_001369268.1

p.Y517C

c.1550A>G

1 paper

NM_001369268.1

p.A516T

c.1546G>A

1 paper

NM_001369268.1

p.Q523*

c.1567C>T

1 paper

NM_001369268.1

p.E511G

c.1532A>G

1 paper

NM_001369268.1

p.E511fs

c.1531_1532fs

1 paper

NM_001369268.1

p.S509S

c.1527G>A

11 papers

NM_001369268.1

p.S509*

c.1526C>A

1 paper

NM_001369268.1

p.R530W

c.1588C>T

3 papers

NM_001369268.1

p.R530Q

c.1589G>A

3 papers

NM_001369268.1

p.A505P

c.1513G>C