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.P909H

c.2726C>A

Surrounding Variants

1 paper

NM_206933.4

p.P909S

c.2725C>T

1 paper

NM_206933.4

p.L908S

c.2723T>C

1 paper

NM_206933.4

p.L908V

c.2722T>G

3 papers

NM_206933.4

p.L908fs

c.2722_2723fs

5 papers

NM_206933.4

p.S904_T907insFs

c.2710_2720dup11

2 papers

NM_206933.4

p.G910delFs

c.2730delC

1 paper

NM_206933.4

p.T911I

c.2732C>T

1 paper

NM_206933.4

p.T907I

c.2720C>T

3 papers

NM_206933.4

p.T911N

c.2732C>A

1 paper

NM_206933.4

p.T911fs

c.2731_2732fs

1 paper

NM_206933.4

p.G906insFs

c.2718dupG

1 paper

NM_206933.4

p.I912fs

c.2734_2735fs