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

2 papers

NM_005761.3

p.C1217R

c.3649T>C

Surrounding Variants

1 paper

NM_005761.3

p.S1247F

c.3740C>T

1 paper

NM_005761.3

p.L1270fs

c.3808_3809fs

1 paper

NM_005761.3

p.T1288I

c.3863C>T

1 paper

NM_005761.3

p.G1290D

c.3869G>A