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.V311V

c.933C>A

Surrounding Variants

1 paper

NM_206933.4

p.V311V

c.933C>G

1 paper

NM_206933.4

p.H312Y

c.934C>T

1 paper

NM_206933.4

p.V311F

c.931G>T

3 papers

NM_206933.4

p.V311I

c.931G>A

1 paper

NM_206933.4

p.H312insFs

c.934dupC

1 paper

NM_206933.4

p.V311_H312Fs

c.933_935delinsTTFs

1 paper

NM_206933.4

p.P313fs

c.937_938fs

1 paper

NM_206933.4

p.P313A

c.937C>G

2 papers

NM_206933.4

p.R310W

c.928C>T

1 paper

NM_206933.4

p.P313H

c.938C>A

1 paper

NM_206933.4

p.P313delFs

c.937delG

7 papers

NM_206933.4

p.P309L

c.926C>T