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.C931S

c.2792G>C

Surrounding Variants

10 papers

NM_206933.4

p.C931Y

c.2792G>A

2 papers

NM_206933.4

p.C931S

c.2791T>A

1 paper

NM_206933.4

p.N932insFs

c.2795_2796insT

7 papers

NM_206933.4

p.Q933*

c.2797C>T

2 papers

NM_206933.4

p.N932insFs

c.2796dupT

1 paper

NM_206933.4

p.R929I

c.2786G>T

1 paper

NM_206933.4

p.R929K

c.2786G>A

2 papers

NM_206933.4

p.C934R

c.2800T>C

1 paper

NM_206933.4

p.C934Y

c.2801G>A

127 papers

NM_206933.4

p.C934W

c.2802T>G

1 paper

NM_206933.4

p.C934C

c.2802T>C

1 paper

NM_206933.4

p.Q927*

c.2779C>T