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.Q765_C766delFs

c.2293_2297del5

Surrounding Variants

2 papers

NM_206933.4

p.C766*

c.2298T>A

1 paper

NM_206933.4

p.E767*

c.2299G>T

2 papers

NM_206933.4

p.C766Y

c.2297G>A

1 paper

NM_206933.4

p.C766delFs

c.2296delA

154 papers

NM_206933.4

p.E767fs

c.2299_2300fs

1 paper

NM_206933.4

p.C766G

c.2296T>G

18 papers

NM_206933.4

p.C766R

c.2296T>C

1 paper

NM_206933.4

p.C766S

c.2296T>A

1 paper

NM_206933.4

p.C766fs

c.2296_2297fs

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