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.G774E

c.2321G>A

Surrounding Variants

1 paper

NM_206933.4

p.G774insFs

c.2321_2322insA

1 paper

NM_206933.4

p.L775F

c.2323C>T

1 paper

NM_206933.4

p.K773_G774insH

c.2317_2321ins3

1 paper

NM_206933.4

p.A772fs

c.2314_2315fs

1 paper

NM_206933.4

p.A772A

c.2316C>A

25 papers

NM_206933.4

p.A772delFs

c.2314delC

1 paper

NM_206933.4

p.A772_L775delFs

c.2315_2325del11

1 paper

NM_206933.4

p.E771_A772Fs

c.2313_2314delinsCFs

1 paper

NM_206933.4

p.A772fs

c.2314_2315fs

3 papers

NM_206933.4

p.L775_Q776del2

c.2323_2327del6

4 papers

NM_206933.4

p.C777Y

c.2330G>A

1 paper

NM_206933.4

p.C777C

c.2331T>C