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.Q413*

c.1237C>T

Surrounding Variants

1 paper

NM_206933.4

p.W412C

c.1236G>T

1 paper

NM_206933.4

p.W412C

c.1236G>C

1 paper

NM_206933.4

p.Q413R

c.1238A>G

1 paper

NM_206933.4

p.Y414*

c.1242T>A

1 paper

NM_206933.4

p.Y414_F415delins

c.1240_1243delinsGAGA

1 paper

NM_206933.4

p.D411Y

c.1231G>T

1 paper

NM_206933.4

p.E404_D411Fs

c.1212_1231delinsCGGATGTAGGTTCAGGATGTAGFs

2 papers

NM_206933.4

p.A416S

c.1246G>T

1 paper

NM_206933.4

p.E410*

c.1228G>T

2 papers

NM_206933.4

p.A416T

c.1246G>A

2 papers

NM_206933.4

p.W409C

c.1227G>T

2 papers

NM_206933.4

p.W409C

c.1227G>C