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.T1435I

c.4304C>T

Surrounding Variants

1 paper

NM_005761.3

p.G1440S

c.4318G>A

2 papers

NM_005761.3

p.R1417C

c.4249C>T

1 paper

NM_005761.3

p.G1461V

c.4382G>T

1 paper

NM_005761.3

p.F1388fs

c.4162_4163fs

1 paper

NM_005761.3

p.F1388insFs

c.4162_4163ins5

3 papers

NM_005761.3

p.F1382Y

c.4145T>A

1 paper

NM_005761.3

p.A1360V

c.4079C>T

1 paper

NM_005761.3

p.K1462_E1463Splc

c.4387-9T>C

1 paper

NM_005761.3

p.K1462_E1463Splc

c.4387-8T>C

1 paper

NM_005761.3

p.V1482A

c.4445T>C

1 paper

NM_005761.3

p.S1498L

c.4493C>T

1 paper

NM_005761.3

p.E1499K

c.4495G>A