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.V85A

c.254T>C

Surrounding Variants

1 paper

NM_001369268.1

p.L86R

c.257T>G

1 paper

NM_001369268.1

p.E83V

c.248A>T

1 paper

NM_001369268.1

p.A89delFs

c.265delG

1 paper

NM_001369268.1

p.K82*

c.244A>T

1 paper

NM_001369268.1

p.E81K

c.241G>A

13 papers

NM_001369268.1

p.E91delFs

c.273delA

1 paper

NM_001369268.1

p.S79F

c.236C>T

1 paper

NM_001369268.1

p.G92R

c.274G>A

1 paper

NM_001369268.1

p.G92R

c.274G>C

1 paper

NM_001369268.1

p.V78M

c.232G>A

4 papers

NM_001369268.1

p.R93fs

c.277_278fs

9 papers

NM_001369268.1

p.R93fs

c.277_278fs