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.F347_T349delFs

c.1039_1046del8

Surrounding Variants

1 paper

NM_005761.3

p.W345_T349del0

c.1035_1046del12

1 paper

NM_005761.3

p.W345_E351delFs

c.1034_1053del20

1 paper

NM_005761.3

p.F347_S352delFs

c.1039_1055del17

1 paper

NM_005761.3

p.K348_T349delFs

c.1044_1045delGA

1 paper

NM_005761.3

p.K341*

c.1021A>T

1 paper

NM_005761.3

p.H353R

c.1058A>G

1 paper

NM_005761.3

p.C354Y

c.1061G>A

1 paper

NM_005761.3

p.S322C

c.965C>G

1 paper

NM_005761.3

p.R320L

c.959G>T

1 paper

NM_005761.3

p.R291P

c.872G>C

1 paper

NM_005761.3

p.G286insFs

c.856_857insA

1 paper

NM_005761.3

p.C283_H285del0

c.849_854del6