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.S666P

c.1996T>C

Surrounding Variants

1 paper

NM_005761.3

p.R689W

c.2065C>T

1 paper

NM_005761.3

p.V707Splc

c.2121-56A>T

1 paper

NM_005761.3

p.M719I

c.2157G>A

1 paper

NM_005761.3

p.M719I

c.2157G>C

1 paper

NM_005761.3

p.M719I

c.2157G>T

1 paper

NM_005761.3

p.R727W

c.2179C>T

4 papers

NM_005761.3

p.R727Q

c.2180G>A

1 paper

NM_005761.3

p.W765R

c.2293T>A

1 paper

NM_005761.3

p.W765R

c.2293T>C