Varaico: Literature-Extracted Genetic Variants

VCAN

394 papers

RefSeq Summary

This gene is a member of the aggrecan/versican proteoglycan family. The protein encoded is a large chondroitin sulfate proteoglycan and is a major component of the extracellular matrix. This protein i...

Pfam Domains

V-setaa 27–148UCSCImmunoglobulin V-set domain

Xlinkaa 150–244UCSCExtracellular link domain

Xlinkaa 251–346UCSCExtracellular link domain

EGFaa 3093–3123UCSCEGF-like domain

EGFaa 3131–3161UCSCEGF-like domain

Lectin_Caa 3186–3291UCSCLectin C-type domain

Gene Aliases

HGNC Name

versican

HGNC Previous Symbol

CSPG2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004385.5

p.R1125H

c.3374G>A

Surrounding Variants

1 paper

NM_004385.5

p.G1127A

c.3380G>C

1 paper

NM_004385.5

p.L1122I

c.3364C>A

1 paper

NM_004385.5

p.P1105fs

c.3313_3314fs

1 paper

NM_004385.5

p.S1152*

c.3455C>A

1 paper

NM_004385.5

p.S1152*

c.3455C>G

1 paper

NM_004385.5

p.I1098T

c.3293T>C

1 paper

NM_004385.5

p.H1160_I1161insTTT

c.3478_3482ins9

1 paper

NM_004385.5

p.L1164R

c.3491T>G

1 paper

NM_004385.5

p.I1178V

c.3532A>G

1 paper

NM_004385.5

p.S1071T

c.3211T>A

1 paper

NM_004385.5

p.S1182_L1184del3

c.3544_3551del9

1 paper

NM_004385.5

p.E1067E

c.3201G>A