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.N986S

c.2957A>G

Surrounding Variants

1 paper

NM_173814.6

p.T983M

c.2948C>T

3 papers

NM_173814.6

p.K977T

c.2930A>C

1 paper

NM_173814.6

p.A999P

c.2995G>C

1 paper

NM_173814.6

p.N1025Y

c.3073A>T

1 paper

NM_173814.6

p.R972*

c.2914C>T

1 paper

NM_173814.6

p.G1042R

c.3124G>C

1 paper

NM_173814.6

p.W1053C

c.3159G>T

1 paper

NM_173814.6

p.W1053C

c.3159G>C

1 paper

NM_173814.6

p.F1056insFs

c.3167dupT

1 paper

NM_173814.6

p.F1056fs

c.3166_3167fs

1 paper

NM_173814.6

p.F1056delFs

c.3167delA

1 paper

NM_173814.6

p.D1058N

c.3172G>A