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

2 papers

NM_001369268.1

p.L146L

c.438G>A

Surrounding Variants

1 paper

NM_001369268.1

p.L146fs

c.436_437fs

1 paper

NM_001369268.1

p.L146delFs

c.436delC

3 papers

NM_001369268.1

p.A144P

c.430G>C

1 paper

NM_001369268.1

p.V150L

c.448G>T

1 paper

NM_001369268.1

p.E143K

c.427G>A

1 paper

NM_001369268.1

p.K151_G152ins10

c.451_455ins30

2 papers

NM_001369268.1

p.G152Splc

c.454+1G>A

1 paper

NM_001369268.1

p.E140K

c.418G>A

1 paper

NM_001369268.1

p.E140*

c.418G>T

1 paper

NM_001369268.1

p.G152Splc

c.454+5G>A

1 paper

NM_001369268.1

p.I139_E140del1

c.416_418delTCG

1 paper

NM_001369268.1

p.G138G

c.414C>G