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.T2883fs

c.8647_8648fs

Surrounding Variants

1 paper

NM_206933.4

p.G2882G

c.8646A>T

1 paper

NM_206933.4

p.Q2884*

c.8650C>T

1 paper

NM_206933.4

p.S2881S

c.8643A>T

6 papers

NM_206933.4

p.S2881insFs

c.8641_8642ins4

2 papers

NM_206933.4

p.S2881insFs

c.8642_8643ins4

1 paper

NM_206933.4

p.Y2880_S2881delFs

c.8638_8641del4

6 papers

NM_206933.4

p.S2881fs

c.8641_8642fs

2 papers

NM_206933.4

p.N2878_I2879del2

c.8632_8636del6

1 paper

NM_206933.4

p.Y2880fs

c.8638_8639fs

25 papers

NM_206933.4

p.L2886F

c.8656C>T

2 papers

NM_206933.4

p.Y2887fs

c.8659_8660fs

2 papers

NM_206933.4

p.Y2887insFs

c.8659dupT