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.L69Q

c.206T>A

Surrounding Variants

1 paper

NM_001369268.1

p.A70insFs

c.208_209insA

1 paper

NM_001369268.1

p.P71L

c.212C>T

1 paper

NM_001369268.1

p.A67T

c.199G>A

4 papers

NM_001369268.1

p.T66T

c.198C>T

1 paper

NM_001369268.1

p.I73delFs

c.217delA

2 papers

NM_001369268.1

p.I73fs

c.217_218fs

1 paper

NM_001369268.1

p.I73T

c.218T>C

1 paper

NM_001369268.1

p.S65T

c.193T>A

10 papers

NM_001369268.1

p.W75R

c.223T>A

11 papers

NM_001369268.1

p.W75R

c.223T>C

1 paper

NM_001369268.1

p.A63G

c.188C>G

1 paper

NM_001369268.1

p.T62N

c.185C>A