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.S442delFs

c.1326delG

Surrounding Variants

1 paper

NM_206933.4

p.N443D

c.1327A>G

1 paper

NM_206933.4

p.N443H

c.1327A>C

2 papers

NM_206933.4

p.N443Splc

c.1328+1G>T

1 paper

NM_206933.4

p.N443Splc

c.1328+1G>A

1 paper

NM_206933.4

p.S442C

c.1325C>G

1 paper

NM_206933.4

p.S442delFs

c.1324delA

1 paper

NM_206933.4

p.S442fs

c.1324_1325fs

1 paper

NM_206933.4

p.L441H

c.1322T>A

2 papers

NM_206933.4

p.Q440*

c.1318C>T

1 paper

NM_206933.4

p.N437_L439del3

c.1309_1316del9

1 paper

NM_206933.4

p.P433_V436insFs

c.1299_1306dup8

1 paper

NM_206933.4

p.V436A

c.1307T>C