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.Q4027R

c.12080A>G

Surrounding Variants

1 paper

NM_206933.4

p.Q4027Q

c.12081A>G

3 papers

NM_206933.4

p.H4029fs

c.12085_12086fs

2 papers

NM_206933.4

p.S4025I

c.12074G>T

1 paper

NM_206933.4

p.H4029fs

c.12085_12086fs

5 papers

NM_206933.4

p.H4029insFs

c.12086dupA

1 paper

NM_206933.4

p.L4030V

c.12088C>G

1 paper

NM_206933.4

p.T4024K

c.12071C>A

1 paper

NM_206933.4

p.Y4031_G4032insA

c.12091_12095ins3

6 papers

NM_206933.4

p.Y4031Y

c.12093C>T

11 papers

NM_206933.4

p.Y4031*

c.12093C>G

11 papers

NM_206933.4

p.Y4031*

c.12093C>A

1 paper

NM_206933.4

p.G4023fs

c.12067_12068fs