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

4 papers

NM_001369268.1

p.F582fs

c.1744_1745fs

Surrounding Variants

6 papers

NM_001369268.1

p.F582fs

c.1744_1745fs

6 papers

NM_001369268.1

p.F582delFs

c.1745delT

3 papers

NM_001369268.1

p.R585S

c.1753C>A

1 paper

NM_001369268.1

p.R585H

c.1754G>A

1 paper

NM_001369268.1

p.G578E

c.1733G>A

5 papers

NM_001369268.1

p.G578Splc

c.1733-1G>A

1 paper

NM_001369268.1

p.E587delFs

c.1759_1760delGA

1 paper

NM_001369268.1

p.E587K

c.1759G>A

7 papers

NM_001369268.1

p.Q588*

c.1762C>T

1 paper

NM_001369268.1

p.F589C

c.1766T>G

8 papers

NM_001369268.1

p.Q592*

c.1774C>T

1 paper

NM_001369268.1

p.L595L

c.1783C>T