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.R210Splc

c.629+1G>T

Surrounding Variants

4 papers

NM_001369268.1

p.R210*

c.628A>T

1 paper

NM_001369268.1

p.V209I

c.625G>A

1 paper

NM_001369268.1

p.T208_V209insFs

c.624_625insA

1 paper

NM_001369268.1

p.T208_V209insA

c.622_626ins3

1 paper

NM_001369268.1

p.Q207K

c.619C>A

1 paper

NM_001369268.1

p.A205D

c.614C>A

2 papers

NM_001369268.1

p.W203*

c.609G>A

4 papers

NM_001369268.1

p.W203C

c.609G>C

4 papers

NM_001369268.1

p.W203C

c.609G>T

1 paper

NM_001369268.1

p.W203*

c.608G>A

1 paper

NM_001369268.1

p.G202S

c.604G>A

1 paper

NM_001369268.1

p.D194D

c.582C>T