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.T1334insFs

c.4000dupA

Surrounding Variants

1 paper

NM_004385.5

p.K1333fs

c.3997_3998fs

1 paper

NM_004385.5

p.E1328Q

c.3982G>C

1 paper

NM_004385.5

p.G1335Splc

c.4003+16C>G

1 paper

NM_004385.5

p.V1324F

c.3970G>T

1 paper

NM_004385.5

p.H1319Q

c.3957C>A

1 paper

NM_004385.5

p.H1319Q

c.3957C>G

1 paper

NM_004385.5

p.H1319L

c.3956A>T

1 paper

NM_004385.5

p.F1318_D1321del0

c.3954_3962del9

3 papers

NM_004385.5

p.T1309M

c.3926C>T

1 paper

NM_004385.5

p.S1308C

c.3923C>G

1 paper

NM_004385.5

p.A1306G

c.3917C>G

1 paper

NM_004385.5

p.T1281M

c.3842C>T