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.S105P

c.313T>C

Surrounding Variants

1 paper

NM_001369268.1

p.L106L

c.318G>T

5 papers

NM_001369268.1

p.Q101*

c.301C>T

2 papers

NM_001369268.1

p.A111T

c.331G>A

1 paper

NM_001369268.1

p.V96A

c.287T>C

1 paper

NM_001369268.1

p.V96_N97insCA

c.286_290ins6

4 papers

NM_001369268.1

p.R95W

c.283C>T

1 paper

NM_001369268.1

p.A116A

c.348C>A

2 papers

NM_001369268.1

p.R93H

c.278G>A

4 papers

NM_001369268.1

p.R93fs

c.277_278fs

9 papers

NM_001369268.1

p.R93fs

c.277_278fs

1 paper

NM_001369268.1

p.T117I

c.350C>T

1 paper

NM_001369268.1

p.G92R

c.274G>A