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.Q285H

c.855G>C

Surrounding Variants

1 paper

NM_001369268.1

p.Q285H

c.855G>T

1 paper

NM_001369268.1

p.L286P

c.857T>C

1 paper

NM_001369268.1

p.Y287N

c.859T>A

1 paper

NM_001369268.1

p.Y287C

c.860A>G

1 paper

NM_001369268.1

p.G284fs

c.850_851fs

1 paper

NM_001369268.1

p.G284_Q285delFs

c.851_854del4

1 paper

NM_001369268.1

p.Y287*

c.861C>A

1 paper

NM_001369268.1

p.Y287*

c.861C>G

1 paper

NM_001369268.1

p.T283M

c.848C>T

1 paper

NM_001369268.1

p.G284delFs

c.851delG

2 papers

NM_001369268.1

p.T282I

c.845C>T

1 paper

NM_001369268.1

p.A289T

c.865G>A