Varaico: Literature-Extracted Genetic Variants

Gene:NCAN
Variant:p.L127L

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.L127L
c.381G>A
Surrounding Variants
1 paper
NM_004386.3
p.L127delFs
c.380delT
1 paper
NM_004386.3
p.R131W
c.391A>T
1 paper
NM_004386.3
p.S133I
c.398G>T
1 paper
NM_004386.3
p.A121T
c.361G>A
1 paper
NM_004386.3
p.S135F
c.404C>T
1 paper
NM_004386.3
p.R118Q
c.353G>A
1 paper
NM_004386.3
p.R139P
c.416G>C
1 paper
NM_004386.3
p.Q141R
c.422A>G
1 paper
NM_004386.3
p.L113M
c.337C>A
1 paper
NM_004386.3
p.V143V
c.429G>A
1 paper
NM_004386.3
p.R110Q
c.329G>A
1 paper
NM_004386.3
p.G109E
c.326G>A
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