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

6 papers

NM_206933.4

p.G873R

c.2617G>A

Surrounding Variants

6 papers

NM_206933.4

p.G873R

c.2617G>C

1 paper

NM_206933.4

p.L872delFs

c.2616delT

1 paper

NM_206933.4

p.L872_G873delFs

c.2616_2617delCT

1 paper

NM_206933.4

p.G873G

c.2619G>A

1 paper

NM_206933.4

p.V874I

c.2620G>A

1 paper

NM_206933.4

p.V874E

c.2621T>A

1 paper

NM_206933.4

p.C870delFs

c.2610delG

28 papers

NM_206933.4

p.C870*

c.2610C>A

2 papers

NM_206933.4

p.C870F

c.2609G>T

1 paper

NM_206933.4

p.C870Y

c.2609G>A

1 paper

NM_206933.4

p.G876fs

c.2626_2627fs

1 paper

NM_206933.4

p.G876ins1

c.2626_2627insTTT