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.F793L

c.2379T>G

Surrounding Variants

1 paper

NM_173814.6

p.F793L

c.2379T>A

1 paper

NM_173814.6

p.F793L

c.2377T>C

1 paper

NM_173814.6

p.G763C

c.2287G>T

1 paper

NM_173814.6

p.N754D

c.2260A>G

1 paper

NM_173814.6

p.W742C

c.2226G>T

1 paper

NM_173814.6

p.W742C

c.2226G>C

1 paper

NM_173814.6

p.S737S

c.2211C>T

1 paper

NM_173814.6

p.R717S

c.2149C>A

1 paper

NM_173814.6

p.R715C

c.2143C>T

1 paper

NM_173814.6

p.V826L

c.2476G>T

1 paper

NM_173814.6

p.V826L

c.2476G>C

1 paper

NM_173814.6

p.A836fs

c.2506_2507fs