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.R41W

c.121C>T

Surrounding Variants

1 paper

NM_005761.3

p.Q53R

c.158A>G

1 paper

NM_005761.3

p.E54A

c.161A>C

1 paper

NM_005761.3

p.A23T

c.67G>A

1 paper

NM_005761.3

p.V59A

c.176T>C

1 paper

NM_005761.3

p.L19fs

c.55_56fs

1 paper

NM_005761.3

p.S63N

c.188G>A

1 paper

NM_005761.3

p.D69V

c.206A>T

1 paper

NM_005761.3

p.S77L

c.230C>T

1 paper

NM_005761.3

p.R78C

c.232C>T

1 paper

NM_005761.3

p.E2fs

c.4_5fs

1 paper

NM_005761.3

p.E2delFs

c.4delG

1 paper

NM_005761.3

p.P95del1

c.283_285delCCC