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.G609A

c.1826G>C

Surrounding Variants

8 papers

NM_001369268.1

p.A606D

c.1817C>A

2 papers

NM_001369268.1

p.A606G

c.1817C>G

1 paper

NM_001369268.1

p.L605L

c.1813C>T

2 papers

NM_001369268.1

p.A603A

c.1809T>C

1 paper

NM_001369268.1

p.R617H

c.1850G>A

1 paper

NM_001369268.1

p.S600insFs

c.1799_1800insA

1 paper

NM_001369268.1

p.D620_C622delFs

c.1858_1865del8

1 paper

NM_001369268.1

p.D620insFs

c.1859_1860insC

6 papers

NM_001369268.1

p.K621*

c.1861A>T

1 paper

NM_001369268.1

p.L595L

c.1783C>T

1 paper

NM_001369268.1

p.A624_G625insA

c.1870_1874ins3

4 papers

NM_001369268.1

p.L627_A628insFs

c.1880_1883dup4