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.S32_I33insFs

c.96_97insCA

Surrounding Variants

1 paper

NM_001369268.1

p.S32_R40delFs

c.96_118del23

1 paper

NM_001369268.1

p.S32fs

c.94_95fs

1 paper

NM_001369268.1

p.I33I

c.99C>T

1 paper

NM_001369268.1

p.S28S

c.84G>A

2 papers

NM_001369268.1

p.S28W

c.83C>G

2 papers

NM_001369268.1

p.P38L

c.113C>T

3 papers

NM_001369268.1

p.L39insFs

c.116dupT

4 papers

NM_001369268.1

p.R40fs

c.118_119fs

1 paper

NM_001369268.1

p.D24Splc

c.71-1G>C

1 paper

NM_001369268.1

p.L42F

c.124C>T

1 paper

NM_001369268.1

p.G44R

c.130G>A

1 paper

NM_001369268.1

p.G44R

c.130G>C