Varaico: Literature-Extracted Genetic Variants

PRTG

80 papers

RefSeq Summary

This gene encodes a member of the immunoglobulin superfamily. The encoded transmembrane protein has been associated with the development of various tissues, especially neurogenesis. It has been sugges...

Pfam Domains

I-setaa 39–131UCSCImmunoglobulin I-set domain

Ig_3aa 134–208UCSCImmunoglobulin domain

Ig_3aa 234–308UCSCImmunoglobulin domain

I-setaa 327–412UCSCImmunoglobulin I-set domain

fn3aa 420–511UCSCFibronectin type III domain

fn3aa 518–609UCSCFibronectin type III domain

Gene Aliases

HGNC Name

protogenin

HGNC Alias Symbols

FLJ25756; IGDCC5

Papers

RefSeq ID

Protein change

DNA change

1–12 of 96 variants

4 papers

NM_173814.6

p.E104D

c.312G>T

3 papers

NM_173814.6

p.E104D

c.312G>C

3 papers

NM_173814.6

p.K977T

c.2930A>C

2 papers

NM_173814.6

p.P13S

c.37C>T

2 papers

NM_173814.6

p.C60F

c.179G>T

2 papers

NM_173814.6

p.R546W

c.1636C>T

2 papers

NM_173814.6

p.P570L

c.1709C>T

2 papers

NM_173814.6

p.V604A

c.1811T>C

2 papers

NM_173814.6

p.P709L

c.2126C>T

2 papers

NM_173814.6

p.T878S

c.2632A>T

2 papers

NM_173814.6

p.T878S

c.2633C>G

2 papers

NM_173814.6

p.R928H

c.2783G>A