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.P309A

c.925C>G

Surrounding Variants

1 paper

NM_206933.4

p.P309T

c.925C>A

7 papers

NM_206933.4

p.P309L

c.926C>T

15 papers

NM_206933.4

p.H308fs

c.922_923fs

2 papers

NM_206933.4

p.H308insFs

c.923dupA

58 papers

NM_206933.4

p.S307_H308insFs

c.920_923dup4

1 paper

NM_206933.4

p.H308P

c.923A>C

3 papers

NM_206933.4

p.H308insFs

c.923_924ins4

2 papers

NM_206933.4

p.R310W

c.928C>T

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

3 papers

NM_206933.4

p.S307fs

c.919_920fs