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.V166M

c.496G>A

Surrounding Variants

1 paper

NM_005761.3

p.R193C

c.577C>T

2 papers

NM_005761.3

p.R137W

c.409C>T

1 paper

NM_005761.3

p.T203S

c.607A>T

1 paper

NM_005761.3

p.A206T

c.616G>A

1 paper

NM_005761.3

p.G120E

c.359G>A

1 paper

NM_005761.3

p.A117T

c.349G>A

1 paper

NM_005761.3

p.E227K

c.679G>A

1 paper

NM_005761.3

p.H233D

c.697C>G

1 paper

NM_005761.3

p.R98W

c.292C>T

1 paper

NM_005761.3

p.P95del1

c.283_285delCCC

1 paper

NM_005761.3

p.G242S

c.724G>A

1 paper

NM_005761.3

p.Y249fs

c.745_746fs