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.N3257fs

c.9769_9770fs

Surrounding Variants

2 papers

NM_206933.4

p.N3257fs

c.9769_9770fs

3 papers

NM_206933.4

p.N3257insFs

c.9770dupA

1 paper

NM_206933.4

p.R3258Q

c.9773G>A

1 paper

NM_206933.4

p.V3259I

c.9775G>A

1 paper

NM_206933.4

p.V3259A

c.9776T>C

2 papers

NM_206933.4

p.C3251*

c.9753T>A

1 paper

NM_206933.4

p.G3262V

c.9785G>T

1 paper

NM_206933.4

p.C3251Y

c.9752G>A

1 paper

NM_206933.4

p.C3251_P3252insC

c.9751_9755ins3

6 papers

NM_206933.4

p.C3251R

c.9751T>C

2 papers

NM_206933.4

p.G3264fs

c.9790_9791fs

2 papers

NM_206933.4

p.G3264S

c.9790G>A