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.E287_F289del0

c.861_866del6

Surrounding Variants

1 paper

NM_206933.4

p.F289Fs

c.867delinsAGAATATGFs

1 paper

NM_206933.4

p.E287_F289delFs

c.859_866del8

1 paper

NM_206933.4

p.S290P

c.868T>C

1 paper

NM_206933.4

p.F289S

c.866T>C

1 paper

NM_206933.4

p.S290F

c.869C>T

1 paper

NM_206933.4

p.V288G

c.863T>G

1 paper

NM_206933.4

p.G291R

c.871G>C

2 papers

NM_206933.4

p.G291R

c.871G>A

1 paper

NM_206933.4

p.V288I

c.862G>A

2 papers

NM_206933.4

p.E287*

c.859G>T

1 paper

NM_206933.4

p.D292V

c.875A>T

1 paper

NM_206933.4

p.D292G

c.875A>G