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.P4035S

c.12103C>T

Surrounding Variants

3 papers

NM_206933.4

p.P4035L

c.12104C>T

2 papers

NM_206933.4

p.P4035R

c.12104C>G

1 paper

NM_206933.4

p.E4034*

c.12100G>T

1 paper

NM_206933.4

p.T4037S

c.12109A>T

11 papers

NM_206933.4

p.G4032R

c.12094G>C

11 papers

NM_206933.4

p.G4032R

c.12094G>A

7 papers

NM_206933.4

p.Y4031delFs

c.12093delG

2 papers

NM_206933.4

p.T4038A

c.12112A>G

1 paper

NM_206933.4

p.L4030_T4037del8

c.12088_12110del24

6 papers

NM_206933.4

p.Y4031Y

c.12093C>T

11 papers

NM_206933.4

p.Y4031*

c.12093C>G

11 papers

NM_206933.4

p.Y4031*

c.12093C>A