Varaico: Literature-Extracted Genetic Variants

Gene:NCAN
Variant:p.Q715H

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.Q715H
c.2145G>T
Surrounding Variants
1 paper
NM_004386.3
p.Q715H
c.2145G>C
1 paper
NM_004386.3
p.A703_D704del2
c.2107_2111del6
1 paper
NM_004386.3
p.M694I
c.2082G>C
1 paper
NM_004386.3
p.A693T
c.2077G>A
1 paper
NM_004386.3
p.Q689K
c.2065C>A
1 paper
NM_004386.3
p.T743I
c.2228C>T
1 paper
NM_004386.3
p.G688_A693del6
c.2062_2078del18
1 paper
NM_004386.3
p.T748P
c.2242A>C
1 paper
NM_004386.3
p.P754S
c.2260C>T
1 paper
NM_004386.3
p.P754L
c.2261C>T
1 paper
NM_004386.3
p.G755R
c.2263G>A
1 paper
NM_004386.3
p.G755R
c.2263G>C
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