NCAN neurocan

Canonical transcript: NM_004386

75 unique variant annotations were identified in 197 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
19-19324433-G-A c.-8+1560G>A - intron_variant - 1/14 1
19-19324443-A-C c.-8+1570A>C - intron_variant - 1/14 1
19-19324443-A-G c.-8+1570A>G - intron_variant - 1/14 1
19-19325963-G-C c.-7-1793G>C - IntronicSNV - 1/14 1
19-19325963-G-T c.-7-1793G>T - IntronicSNV - 1/14 1
19-19329783-GG-AC c.133_134delinsAC p.Gly45Thr Missense 3/15 - 1
19-19329858-G-A c.208G>A p.Ala70Thr Missense 3/15 - 1
19-19329873-C-T c.223C>T p.Arg75Trp Missense 3/15 - 1
19-19329894-C-T c.244C>T p.Arg82Trp Missense 3/15 - 1
19-19329924-C-A c.274C>A p.Pro92Thr Missense 3/15 - 79
19-19329924-C-T c.274C>T p.Pro92Ser Missense 3/15 - 87
19-19330001-C-A c.351C>A p.Pro117Pro Synonymous 3/15 - 1
19-19330001-C-G c.351C>G p.Pro117Pro Synonymous 3/15 - 1
19-19330001-C-T c.351C>T p.Pro117Pro Synonymous 3/15 - 1
19-19334894-G-C c.540G>C p.Glu180Asp Missense 4/15 - 1
19-19334894-G-T c.540G>T p.Glu180Asp Missense 4/15 - 1
19-19334961-T-C c.607T>C p.Phe203Leu Missense 4/15 - 1
19-19334963-T-A c.609T>A p.Phe203Leu Missense 4/15 - 1
19-19334963-T-G c.609T>G p.Phe203Leu Missense 4/15 - 1
19-19334995-G-A c.641G>A p.Arg214His Missense 4/15 - 1
19-19335083-A-G c.651-32A>G - IntronicSNV - 4/14 1
19-19335209-T-C c.745T>C p.Tyr249His Missense 5/15 - 1
19-19335307-A-C c.778+65A>C - IntronicSNV - 5/14 1
19-19335307-A-G c.778+65A>G - IntronicSNV - 5/14 1
19-19335788-G-A c.781G>A p.Glu261Lys Missense 6/15 - 1
19-19336608-C-T c.1072+529C>T - IntronicSNV - 6/14 9
19-19337552-G-A c.1330G>A p.Gly444Arg Missense 7/15 - 1
19-19337552-G-C c.1330G>C p.Gly444Arg Missense 7/15 - 1
19-19337592-A-T c.1370A>T p.Asp457Val Missense 7/15 - 1
19-19337630-G-C c.1408G>C p.Val470Leu Missense 7/15 - 1
19-19337630-G-T c.1408G>T p.Val470Leu Missense 7/15 - 1
19-19337732-A-C c.1510A>C p.Met504Leu Missense 7/15 - 1
19-19337732-A-T c.1510A>T p.Met504Leu Missense 7/15 - 1
19-19337864-G-T c.1642G>T p.Val548Leu Missense 7/15 - 1
19-19338186-A-T c.1757A>T p.Glu586Val Missense 8/15 - 1
19-19338200-G-A c.1771G>A p.Glu591Lys Missense 8/15 - 1
19-19338227-C-G c.1798C>G p.Pro600Ala Missense 8/15 - 1
19-19338395-AG-CA c.1966_1967delinsCA p.Arg656Gln Missense 8/15 - 1
19-19338650-A-C c.2221A>C p.Thr741Pro Missense 8/15 - 1
19-19338747-C-T c.2318C>T p.Ala773Val Missense 8/15 - 1
19-19338794-GGG-AGC c.2365_2367delinsAGC p.Gly789Ser Missense 8/15 - 1
19-19338942-G-A c.2513G>A p.Ser838Asn Missense 8/15 - 3
19-19339028-A-G c.2599A>G p.Thr867Ala Missense 8/15 - 1
19-19339041-C-T c.2612C>T p.Thr871Met Missense 8/15 - 1
19-19339216-T-A c.2787T>A p.Pro929Pro Synonymous 8/15 - 1
19-19339216-T-C c.2787T>C p.Pro929Pro Synonymous 8/15 - 1
19-19339216-T-G c.2787T>G p.Pro929Pro Synonymous 8/15 - 1
19-19339285-G-A c.2856G>A p.Pro952Pro Synonymous 8/15 - 1
19-19339285-G-C c.2856G>C p.Pro952Pro Synonymous 8/15 - 1
19-19339285-G-T c.2856G>T p.Pro952Pro Synonymous 8/15 - 1
19-19339337-G-A c.2908G>A p.Glu970Lys Missense 8/15 - 2
19-19339646-A-G c.3019+198A>G - IntronicSNV - 8/14 1
19-19344693-G-A c.3115G>A p.Ala1039Thr Missense 9/15 - 1
19-19344693-G-T c.3115G>T p.Ala1039Ser Missense 9/15 - 1
19-19349163-C-T c.3352C>T p.Arg1118Cys Missense 11/15 - 1
19-19349187-G-A c.3376G>A p.Val1126Ile Missense 11/15 - 1
19-19349218-A-C c.3407A>C p.Asn1136Thr Missense 11/15 - 1
19-19351431-G-A c.3429G>A p.Thr1143Thr Synonymous 12/15 - 1
19-19356121-G-T c.3493-1G>T - IntronicSNV - 12/14 1
19-19356209-C-T c.3580C>T p.Arg1194Cys Missense 13/15 - 1
19-19356232-C-A c.3603C>A p.Asn1201Lys Missense 13/15 - 1
19-19356232-C-G c.3603C>G p.Asn1201Lys Missense 13/15 - 1
19-19357612-A-G c.3637+1346A>G - IntronicSNV - 13/14 1
19-19358086-G-A c.3638-1423G>A - IntronicSNV - 13/14 1
19-19358207-C-T c.3638-1302C>T - IntronicSNV - 13/14 4
19-19358672-A-C c.3638-837A>C - IntronicSNV - 13/14 3
19-19358819-C-G c.3638-690C>G - IntronicSNV - 13/14 1
19-19358819-C-T c.3638-690C>T - IntronicSNV - 13/14 1
19-19359058-C-A c.3638-451C>A - IntronicSNV - 13/14 1
19-19359058-C-T c.3638-451C>T - IntronicSNV - 13/14 1
19-19359500-C-A c.3638-9C>A - IntronicSNV - 13/14 2
19-19359500-C-G c.3638-9C>G - IntronicSNV - 13/14 2
19-19359574-A-G c.3703A>G p.Asn1235Asp Missense 14/15 - 1
19-19359691-C-T c.3820C>T p.Pro1274Ser Missense 14/15 - 1
19-19361735-G-A c.*1015G>A - 3-UTRSNV 15/15 - 41