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

3 papers

NM_206933.4

p.Y2566*

c.7698T>A

Surrounding Variants

3 papers

NM_206933.4

p.Y2566*

c.7698T>G

2 papers

NM_206933.4

p.Y2566Y

c.7698T>C

2 papers

NM_206933.4

p.Y2566fs

c.7696_7697fs

1 paper

NM_206933.4

p.I2568F

c.7702A>T

1 paper

NM_206933.4

p.T2564I

c.7691C>T

17 papers

NM_206933.4

p.V2562A

c.7685T>C

1 paper

NM_206933.4

p.V2562F

c.7684G>T

1 paper

NM_206933.4

p.G2561G

c.7683G>A

1 paper

NM_206933.4

p.R2573C

c.7717C>T

3 papers

NM_206933.4

p.N2560S

c.7679A>G

2 papers

NM_206933.4

p.R2573P

c.7718G>C

3 papers

NM_206933.4

p.R2573H

c.7718G>A