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

3 papers

NM_005761.3

p.R554Q

c.1661G>A

Surrounding Variants

2 papers

NM_005761.3

p.K549R

c.1646A>G

1 paper

NM_005761.3

p.I560V

c.1678A>G

1 paper

NM_005761.3

p.T590A

c.1768A>G

1 paper

NM_005761.3

p.A607T

c.1819G>A

1 paper

NM_005761.3

p.A607V

c.1820C>T

3 papers

NM_005761.3

p.R614S

c.1842G>C

3 papers

NM_005761.3

p.R614S

c.1842G>T

1 paper

NM_005761.3

p.P624T

c.1870C>A

1 paper

NM_005761.3

p.V638G

c.1913T>G

1 paper

NM_005761.3

p.T641K

c.1922C>A