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

9 papers

NM_206933.4

p.A4049T

c.12145G>A

Surrounding Variants

1 paper

NM_206933.4

p.H4048Y

c.12142C>T

1 paper

NM_206933.4

p.G4050A

c.12149G>C

2 papers

NM_206933.4

p.E4051fs

c.12151_12152fs

3 papers

NM_206933.4

p.E4051insFs

c.12152_12153insTT

2 papers

NM_206933.4

p.E4051fs

c.12151_12152fs

1 paper

NM_206933.4

p.S4054R

c.12160A>C

1 paper

NM_206933.4

p.Y4039_L4053del15

c.12115_12158del45

6 papers

NM_206933.4

p.S4054I

c.12161G>T

1 paper

NM_206933.4

p.S4054N

c.12161G>A

1 paper

NM_206933.4

p.S4054R

c.12162C>G

1 paper

NM_206933.4

p.S4054R

c.12162C>A

1 paper

NM_206933.4

p.G4042delFs

c.12125delC