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.C304S

c.911G>C

Surrounding Variants

2 papers

NM_206933.4

p.C304S

c.910T>A

1 paper

NM_206933.4

p.C304delFs

c.911delC

1 paper

NM_206933.4

p.C304fs

c.910_911fs

32 papers

NM_206933.4

p.R303H

c.908G>A

8 papers

NM_206933.4

p.R303C

c.907C>T

16 papers

NM_206933.4

p.R303S

c.907C>A

1 paper

NM_206933.4

p.G306R

c.916G>C

6 papers

NM_206933.4

p.G306S

c.916G>A

1 paper

NM_206933.4

p.H301_P305del5

c.901_914del15

1 paper

NM_206933.4

p.G306V

c.917G>T

1 paper

NM_206933.4

p.C302F

c.905G>T

1 paper

NM_206933.4

p.C302insFs

c.905_906insTT