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.T865A

c.2593A>G

Surrounding Variants

1 paper

NM_206933.4

p.T865insFs

c.2593dupA

1 paper

NM_206933.4

p.T865T

c.2595A>T

1 paper

NM_206933.4

p.T865delFs

c.2594_2595delTG

1 paper

NM_206933.4

p.S864fs

c.2590_2591fs

1 paper

NM_206933.4

p.G866E

c.2597G>A

1 paper

NM_206933.4

p.K863R

c.2588A>G

2 papers

NM_206933.4

p.Q867*

c.2599C>T

1 paper

NM_206933.4

p.C861_G866del6

c.2581_2597del18

1 paper

NM_206933.4

p.L859_G866del8

c.2575_2597del24

1 paper

NM_206933.4

p.N862S

c.2585A>G

1 paper

NM_206933.4

p.N862Y

c.2584A>T

1 paper

NM_206933.4

p.N862D

c.2584A>G