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

2 papers

NM_206933.4

p.T799_A800delFs

c.2395_2398del4

Surrounding Variants

1 paper

NM_206933.4

p.A800P

c.2398G>C

1 paper

NM_206933.4

p.A800T

c.2398G>A

1 paper

NM_206933.4

p.T799A

c.2395A>G

1 paper

NM_206933.4

p.G801delFs

c.2402delC

1 paper

NM_206933.4

p.S802T

c.2404T>A

1 paper

NM_206933.4

p.A800_G801del2

c.2398_2402del6

1 paper

NM_206933.4

p.D798E

c.2394C>G

1 paper

NM_206933.4

p.D798E

c.2394C>A

1 paper

NM_206933.4

p.S802C

c.2405C>G

4 papers

NM_206933.4

p.D798V

c.2393A>T

1 paper

NM_206933.4

p.C797_D798delFs

c.2391_2392delCA

1 paper

NM_206933.4

p.C797*

c.2391T>A