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

5 papers

NM_206933.4

p.G262fs

c.784_785fs

Surrounding Variants

2 papers

NM_206933.4

p.G262D

c.785G>A

1 paper

NM_206933.4

p.G262G

c.786T>C

1 paper

NM_206933.4

p.G262Splc

c.785-1G>C

2 papers

NM_206933.4

p.G262Splc

c.785-1G>A

1 paper

NM_206933.4

p.G262Splc

c.785-2A>C

1 paper

NM_206933.4

p.L263*

c.788T>G

1 paper

NM_206933.4

p.L263S

c.788T>C

1 paper

NM_206933.4

p.Q265*

c.793C>T

1 paper

NM_206933.4

p.Q265K

c.793C>A

1 paper

NM_206933.4

p.Q265R

c.794A>G

1 paper

NM_206933.4

p.F266V

c.796T>G

1 paper

NM_206933.4

p.V267F

c.799G>T