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

3 papers

NM_206933.4

p.S307fs

c.919_920fs

Surrounding Variants

5 papers

NM_206933.4

p.S307I

c.920G>T

1 paper

NM_206933.4

p.H301_S307delFs

c.901_919del19

1 paper

NM_206933.4

p.H308insFs

c.922_923ins4

4 papers

NM_206933.4

p.S307_H308insFs

c.921_922ins4

34 papers

NM_206933.4

p.H308fs

c.922_923fs

1 paper

NM_206933.4

p.H308P

c.923A>C

2 papers

NM_206933.4

p.G306insFs

c.917_918ins4

3 papers

NM_206933.4

p.H308insFs

c.923_924ins4

2 papers

NM_206933.4

p.G306insFs

c.916dupG

2 papers

NM_206933.4

p.G306_S307insFs

c.918_919ins4

15 papers

NM_206933.4

p.H308fs

c.922_923fs

1 paper

NM_206933.4

p.G306fs

c.916_917fs