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.P338R

c.1013C>G

Surrounding Variants

1 paper

NM_001369268.1

p.T335M

c.1004C>T

1 paper

NM_001369268.1

p.N333S

c.998A>G

1 paper

NM_001369268.1

p.N333D

c.997A>G

1 paper

NM_001369268.1

p.Y344*

c.1032C>A

1 paper

NM_001369268.1

p.Y344*

c.1032C>G

1 paper

NM_001369268.1

p.V330M

c.988G>A

2 papers

NM_001369268.1

p.Y329N

c.985T>A

1 paper

NM_001369268.1

p.V328I

c.982G>A

9 papers

NM_001369268.1

p.Y349C

c.1046A>G

9 papers

NM_001369268.1

p.Y349*

c.1047C>A

9 papers

NM_001369268.1

p.Y349*

c.1047C>G

7 papers

NM_001369268.1

p.Y349_T350delins

c.1047_1048delinsAC