PROCR protein C receptor

Canonical transcript: NM_006404

38 unique variant annotations were identified in 143 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
20-33759978-G-A c.21G>A p.Pro7Pro Synonymous 1/4 - 1
20-33759991-T-G c.34T>G p.Ser12Ala Missense 1/4 - 1
20-33760024-GA-AG c.67_68delinsAG p.Asp23Ser Missense 1/4 - 1
20-33762035-T-C c.71-470T>C - IntronicSNV - 1/3 1
20-33762489-C-T c.71-16C>T - IntronicSNV - 1/3 11
20-33762512-A-C c.78A>C p.Gln26His Missense 2/4 - 1
20-33762534-TC-AA c.100_101delinsAA p.Ser34Asn Missense 2/4 - 1
20-33762664-A-G c.230A>G p.Glu77Gly Missense 2/4 - 1
20-33762675-CG-GC c.241_242delinsGC p.Arg81Ala Missense 2/4 - 1
20-33762687-G-C c.253G>C p.Gly85Arg Missense 2/4 - 1
20-33762696-T-C c.262T>C p.Ser88Pro Missense 2/4 - 1
20-33762854-A-G c.322+98A>G - IntronicSNV - 2/3 2
20-33762854-A-T c.322+98A>T - IntronicSNV - 2/3 2
20-33763282-C-G c.322+526C>G - IntronicSNV - 2/3 1
20-33763764-G-A c.323-207G>A - IntronicSNV - 2/3 4
20-33763951-C-T c.323-20C>T - IntronicSNV - 2/3 11
20-33764082-C-T c.434C>T p.Pro145Leu Missense 3/4 - 1
20-33764087-AGA-TGG c.439_441delinsTGG p.Arg147Trp Missense 3/4 - 1
20-33764117-A-G c.469A>G p.Thr157Ala Missense 3/4 - 1
20-33764120-T-C c.472T>C p.Ser158Pro Missense 3/4 - 1
20-33764137-C-T c.489C>T p.Phe163Phe Synonymous 3/4 - 1
20-33764222-AA-GC c.574_575delinsGC p.Lys192Ala Missense 3/4 - 1
20-33764225-ACAT-A c.577_579del p.His193del InFrameDeletion 3/4 - 1
20-33764231-T-G c.583T>G p.Ser195Ala Missense 3/4 - 18
20-33764292-C-A c.601+43C>A - IntronicSNV - 3/3 1
20-33764292-C-T c.601+43C>T - IntronicSNV - 3/3 1
20-33764458-T-A c.602-43T>A - IntronicSNV - 3/3 1
20-33764458-T-C c.602-43T>C - IntronicSNV - 3/3 1
20-33764530-C-T c.631C>T p.Leu211Leu Synonymous 4/4 - 1
20-33764542-G-A c.643G>A p.Val215Ile Missense 4/4 - 1
20-33764554-A-G c.655A>G p.Ser219Gly Missense 4/4 - 89
20-33764554-AG-CC c.655_656delinsCC p.Ser219Pro Missense 4/4 - 1
20-33764632-C-A c.*16C>A - 3-UTRSNV 4/4 - 10
20-33764632-C-G c.*16C>G - 3-UTRSNV 4/4 - 10
20-33764632-C-T c.*16C>T - 3-UTRSNV 4/4 - 10
20-33764667-G-C c.*51G>C - 3-UTRSNV 4/4 - 1
20-33764758-C-G c.*142C>G - 3-UTRSNV 4/4 - 1
20-33764978-C-T c.*362C>T - 3-UTRSNV 4/4 - 1