Varaico: Literature-Extracted Genetic Variants

Gene:NCAN
Variant:p.Q493*

NCAN

121 papers

RefSeq Summary

Neurocan is a chondroitin sulfate proteoglycan thought to be involved in the modulation of cell adhesion and migration.[supplied by OMIM, Jul 2002].

Pfam Domains

V-setaa 43–158UCSCImmunoglobulin V-set domain
Xlinkaa 160–254UCSCExtracellular link domain
Xlinkaa 261–356UCSCExtracellular link domain
EGFaa 1012–1042UCSCEGF-like domain
Lectin_Caa 1105–1210UCSCLectin C-type domain
Sushiaa 1215–1271UCSCSushi repeat (SCR repeat)

Gene Aliases

HGNC Name

neurocan

HGNC Previous Symbol

CSPG3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004386.3
p.Q493*
c.1477C>T
Surrounding Variants
1 paper
NM_004386.3
p.R489L
c.1466G>T
1 paper
NM_004386.3
p.L500Q
c.1499T>A
1 paper
NM_004386.3
p.R482G
c.1444C>G
1 paper
NM_004386.3
p.E505V
c.1514A>T
1 paper
NM_004386.3
p.A508T
c.1522G>A
1 paper
NM_004386.3
p.P475_M476delFs
c.1425_1426delTA
1 paper
NM_004386.3
p.A471V
c.1412C>T
1 paper
NM_004386.3
p.A471S
c.1411G>T
1 paper
NM_004386.3
p.E469K
c.1405G>A
1 paper
NM_004386.3
p.M520L
c.1558A>C
1 paper
NM_004386.3
p.M520L
c.1558A>T
1 paper
NM_004386.3
p.P522L
c.1565C>T
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