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.C175_L176insFs

c.525_526insC

Surrounding Variants

1 paper

NM_001369268.1

p.C175F

c.524G>T

1 paper

NM_001369268.1

p.R173W

c.517C>T

12 papers

NM_001369268.1

p.N178Y

c.532A>T

1 paper

NM_001369268.1

p.N178insFs

c.533_534insG

1 paper

NM_001369268.1

p.N178K

c.534C>A

1 paper

NM_001369268.1

p.N178K

c.534C>G

6 papers

NM_001369268.1

p.Q172delFs

c.515delA

7 papers

NM_001369268.1

p.Q172fs

c.514_515fs

1 paper

NM_001369268.1

p.S179C

c.535A>T

6 papers

NM_001369268.1

p.A171V

c.512C>T

1 paper

NM_001369268.1

p.A171T

c.511G>A

3 papers

NM_001369268.1

p.A180T

c.538G>A