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

Selected Variant

1 paper

NM_173814.6

p.W34R

c.100T>C

Surrounding Variants

1 paper

NM_173814.6

p.W34R

c.100T>A

1 paper

NM_173814.6

p.P55T

c.163C>A

1 paper

NM_173814.6

p.D59Y

c.175G>T

2 papers

NM_173814.6

p.C60F

c.179G>T

1 paper

NM_173814.6

p.A62V

c.185C>T

1 paper

NM_173814.6

p.G64E

c.191G>A

1 paper

NM_173814.6

p.R84W

c.250C>T

1 paper

NM_173814.6

p.R84L

c.251G>T

1 paper

NM_173814.6

p.E86D

c.258G>T

1 paper

NM_173814.6

p.E86D

c.258G>C

1 paper

NM_173814.6

p.G91S

c.271G>A

1 paper

NM_173814.6

p.E104G

c.311A>G