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.G598delFs

c.1794delC

Surrounding Variants

1 paper

NM_173814.6

p.T595I

c.1784C>T

2 papers

NM_173814.6

p.V604A

c.1811T>C

1 paper

NM_173814.6

p.W605L

c.1814G>T

1 paper

NM_173814.6

p.T592A

c.1774A>G

1 paper

NM_173814.6

p.G580V

c.1739G>T

1 paper

NM_173814.6

p.G580S

c.1738G>A

1 paper

NM_173814.6

p.E575*

c.1723G>T

2 papers

NM_173814.6

p.P570L

c.1709C>T

1 paper

NM_173814.6

p.L554M

c.1660T>A

2 papers

NM_173814.6

p.R546W

c.1636C>T

1 paper

NM_173814.6

p.R545W

c.1633C>T

1 paper

NM_173814.6

p.D532G

c.1595A>G