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.L803fs

c.2407_2408fs

Surrounding Variants

2 papers

NM_206933.4

p.S802delFs

c.2405_2406delGG

1 paper

NM_206933.4

p.L803delFs

c.2409delG

1 paper

NM_206933.4

p.G805R

c.2413G>A

1 paper

NM_206933.4

p.G805fs

c.2413_2414fs

1 paper

NM_206933.4

p.S802C

c.2405C>G

1 paper

NM_206933.4

p.S802T

c.2404T>A

1 paper

NM_206933.4

p.A800_G801del2

c.2398_2402del6

9 papers

NM_206933.4

p.G805A

c.2414G>C

1 paper

NM_206933.4

p.G805E

c.2414G>A

1 paper

NM_206933.4

p.G801delFs

c.2402delC

1 paper

NM_206933.4

p.T806A

c.2416A>G

1 paper

NM_206933.4

p.T806I

c.2417C>T