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.R841W

c.2521C>T

Surrounding Variants

1 paper

NM_005761.3

p.T847M

c.2540C>T

1 paper

NM_005761.3

p.Y849_E854del6

c.2545_2561del18

1 paper

NM_005761.3

p.R850L

c.2549G>T

1 paper

NM_005761.3

p.T831N

c.2492C>A

1 paper

NM_005761.3

p.V818G

c.2453T>G

1 paper

NM_005761.3

p.I872_S873delFs

c.2615_2619del5

1 paper

NM_005761.3

p.L902V

c.2704C>G

1 paper

NM_005761.3

p.G964E

c.2891G>A

1 paper

NM_005761.3

p.L983*

c.2948T>A

1 paper

NM_005761.3

p.R989W

c.2965C>T

2 papers

NM_005761.3

p.S1009C

c.3025A>T

1 paper

NM_005761.3

p.E1029_S1030Splc

c.3087+40A>G