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.K793delFs

c.2377delT

Surrounding Variants

1 paper

NM_206933.4

p.A794P

c.2380G>C

2 papers

NM_206933.4

p.C792S

c.2375G>C

2 papers

NM_206933.4

p.C792S

c.2374T>A

3 papers

NM_206933.4

p.C795Y

c.2384G>A

3 papers

NM_206933.4

p.N791K

c.2373T>G

3 papers

NM_206933.4

p.N791K

c.2373T>A

1 paper

NM_206933.4

p.C795delFs

c.2384delC

1 paper

NM_206933.4

p.N791S

c.2372A>G

1 paper

NM_206933.4

p.D796G

c.2387A>G

1 paper

NM_206933.4

p.D796E

c.2388C>A

1 paper

NM_206933.4

p.C797Y

c.2390G>A

1 paper

NM_206933.4

p.C797*

c.2391T>A