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

7 papers

NM_206933.4

p.V350I

c.1048G>A

Surrounding Variants

2 papers

NM_206933.4

p.G351D

c.1052G>A

1 paper

NM_206933.4

p.N348H

c.1042A>C

1 paper

NM_206933.4

p.N348_D349insT

c.1042_1046ins3

26 papers

NM_206933.4

p.T352I

c.1055C>T

8 papers

NM_206933.4

p.D347G

c.1040A>G

5 papers

NM_206933.4

p.D347H

c.1039G>C

1 paper

NM_206933.4

p.D347N

c.1039G>A

1 paper

NM_206933.4

p.S353*

c.1058C>G

1 paper

NM_206933.4

p.S353*

c.1058C>A

1 paper

NM_206933.4

p.T352delFs

c.1056delA

2 papers

NM_206933.4

p.N346S

c.1037A>G

3 papers

NM_206933.4

p.N346D

c.1036A>G