Varaico: Literature-Extracted Genetic Variants

USH2A

1,687 papers

RefSeq Summary

This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in developmen...

Pfam Domains

Laminin_G_3aa 130–286UCSCConcanavalin A-like lectin/glucanases superfamily

Laminin_Naa 293–516UCSCLaminin N-terminal (Domain VI)

EGF_lamininaa 518–566UCSCLaminin EGF domain

EGF_lamininaa 575–634UCSCLaminin EGF domain

EGF_lamininaa 641–691UCSCLaminin EGF domain

EGF_lamininaa 694–744UCSCLaminin EGF domain

Gene Aliases

HGNC Name

usherin

HGNC Previous Symbol

USH2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_206933.4

p.N4071H

c.12211A>C

Surrounding Variants

1 paper

NM_206933.4

p.S4067G

c.12199A>G

2 papers

NM_206933.4

p.P4066fs

c.12196_12197fs

1 paper

NM_206933.4

p.P4066delFs

c.12196_12197delGG

1 paper

NM_206933.4

p.S4064Y

c.12191C>A

2 papers

NM_206933.4

p.E4078*

c.12232G>T

2 papers

NM_206933.4

p.E4078fs

c.12232_12233fs

6 papers

NM_206933.4

p.N4079fs

c.12235_12236fs

10 papers

NM_206933.4

p.E4078_N4079delFs

c.12234_12235delTC

1 paper

NM_206933.4

p.N4079fs

c.12235_12236fs

1 paper

NM_206933.4

p.G4080C

c.12238G>T

1 paper

NM_206933.4

p.G4080S

c.12238G>A

1 paper

NM_206933.4

p.G4080V

c.12239G>T