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.C283_H285del0

c.849_854del6

Surrounding Variants

1 paper

NM_005761.3

p.C283_H285del3

c.847_854del9

1 paper

NM_005761.3

p.G286insFs

c.856_857insA

1 paper

NM_005761.3

p.Q278E

c.832C>G

1 paper

NM_005761.3

p.R291P

c.872G>C

1 paper

NM_005761.3

p.A268T

c.802G>A

1 paper

NM_005761.3

p.I267M

c.801C>G

1 paper

NM_005761.3

p.Y253Y

c.759C>T

1 paper

NM_005761.3

p.Y249delFs

c.747delC

1 paper

NM_005761.3

p.Y249fs

c.745_746fs

1 paper

NM_005761.3

p.R320L

c.959G>T

1 paper

NM_005761.3

p.S322C

c.965C>G

1 paper

NM_005761.3

p.G242S

c.724G>A