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.R4092K

c.12275G>A

Surrounding Variants

1 paper

NM_206933.4

p.R4092_T4093delins

c.12275_12279delinsTGTGATGTGATTAAGGT

1 paper

NM_206933.4

p.P4090H

c.12269C>A

3 papers

NM_206933.4

p.N4094K

c.12282T>G

3 papers

NM_206933.4

p.N4094K

c.12282T>A

4 papers

NM_206933.4

p.P4090T

c.12268C>A

1 paper

NM_206933.4

p.G4095fs

c.12283_12284fs

2 papers

NM_206933.4

p.G4095S

c.12283G>A

6 papers

NM_206933.4

p.G4095D

c.12284G>A

1 paper

NM_206933.4

p.G4095delFs

c.12284delC

1 paper

NM_206933.4

p.W4087C

c.12261G>T

1 paper

NM_206933.4

p.W4087C

c.12261G>C

1 paper

NM_206933.4

p.W4087*

c.12261G>A