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

70 papers

NM_206933.4

p.E767fs

c.2299_2300fs

Surrounding Variants

6 papers

NM_206933.4

p.C768R

c.2302T>C

1 paper

NM_206933.4

p.E767delFs

c.2301delC

1 paper

NM_206933.4

p.E767insFs

c.2299_2300insG

308 papers

NM_206933.4

p.E767delFs

c.2299delC

1 paper

NM_206933.4

p.C766_E767delFs

c.2296_2299del4

1 paper

NM_206933.4

p.C768F

c.2303G>T

1 paper

NM_206933.4

p.E767*

c.2299G>T

2 papers

NM_206933.4

p.C768Y

c.2303G>A

154 papers

NM_206933.4

p.E767fs

c.2299_2300fs

2 papers

NM_206933.4

p.C766*

c.2298T>A

1 paper

NM_206933.4

p.Q765_C766delFs

c.2293_2297del5

1 paper

NM_206933.4

p.C768C

c.2304C>T