Varaico: Literature-Extracted Genetic Variants

PLXNC1

102 papers

RefSeq Summary

This gene encodes a member of the plexin family. Plexins are transmembrane receptors for semaphorins, a large family of proteins that regulate axon guidance, cell motility and migration, and the immun...

Pfam Domains

PSIaa 454–507UCSCPlexin repeat

TIGaa 663–750UCSCIPT/TIG domain

TIGaa 754–840UCSCIPT/TIG domain

Plexin_cytoplaa 1012–1535UCSCPlexin cytoplasmic RasGAP domain

Plexin_RBDaa 1184–1302UCSCPlexin cytoplasmic RhoGTPase-binding domain

Gene Aliases

HGNC Name

plexin C1

HGNC Alias Symbols

VESPR; CD232

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005761.3

p.G1147*

c.3439G>T

Surrounding Variants

1 paper

NM_005761.3

p.R1150_E1151Splc

c.3450+58C>T

1 paper

NM_005761.3

p.P1122L

c.3365C>T

1 paper

NM_005761.3

p.L1091V

c.3271C>G

1 paper

NM_005761.3

p.V1081M

c.3241G>A

1 paper

NM_005761.3

p.H1071L

c.3212A>T

1 paper

NM_005761.3

p.A1046T

c.3136G>A

1 paper

NM_005761.3

p.R1044_D1045del2

c.3130_3134del6

1 paper

NM_005761.3

p.V1153V

c.3459C>T

1 paper

NM_005761.3

p.A1180T

c.3538G>A

1 paper

NM_005761.3

p.Q1192E

c.3574C>G

1 paper

NM_005761.3

p.V1193G

c.3578T>G

1 paper

NM_005761.3

p.E1029_S1030Splc

c.3087+40A>G