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

1–12 of 128 variants

4 papers

NM_005761.3

p.R727Q

c.2180G>A

3 papers

NM_005761.3

p.R554Q

c.1661G>A

3 papers

NM_005761.3

p.R614S

c.1842G>C

3 papers

NM_005761.3

p.R614S

c.1842G>T

3 papers

NM_005761.3

p.F1382Y

c.4145T>A

2 papers

NM_005761.3

p.R137W

c.409C>T

2 papers

NM_005761.3

p.R451C

c.1351C>T

2 papers

NM_005761.3

p.K549R

c.1646A>G

2 papers

NM_005761.3

p.S1009C

c.3025A>T

2 papers

NM_005761.3

p.C1217R

c.3649T>C

2 papers

NM_005761.3

p.R1417C

c.4249C>T

1 paper

NM_005761.3

p.E2delFs

c.4delG