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.S372_L375delFs

c.1115_1125del11

Surrounding Variants

1 paper

NM_206933.4

p.E376D

c.1128A>T

1 paper

NM_206933.4

p.L375M

c.1123T>A

2 papers

NM_206933.4

p.D374V

c.1121A>T

1 paper

NM_206933.4

p.D374H

c.1120G>C

1 paper

NM_206933.4

p.D374N

c.1120G>A

1 paper

NM_206933.4

p.G378V

c.1133G>T

2 papers

NM_206933.4

p.G378E

c.1133G>A

3 papers

NM_206933.4

p.V373I

c.1117G>A

1 paper

NM_206933.4

p.S372delFs

c.1116delT

1 paper

NM_206933.4

p.Q379fs

c.1135_1136fs

2 papers

NM_206933.4

p.Q379*

c.1135C>T

1 paper

NM_206933.4

p.Q379K

c.1135C>A