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

2 papers

NM_206933.4

p.Y3315*

c.9945C>A

Surrounding Variants

2 papers

NM_206933.4

p.Y3315*

c.9945C>G

4 papers

NM_206933.4

p.R3317C

c.9949C>T

1 paper

NM_206933.4

p.R3317S

c.9949C>A

1 paper

NM_206933.4

p.E3311_G3312del1

c.9932_9934delCTT

19 papers

NM_206933.4

p.G3320C

c.9958G>T

1 paper

NM_206933.4

p.G3320Splc

c.9958+1G>T

1 paper

NM_206933.4

p.E3310fs

c.9928_9929fs

1 paper

NM_206933.4

p.E3310*

c.9928G>T

1 paper

NM_206933.4

p.G3309_E3310insFs

c.9927_9928ins4

1 paper

NM_206933.4

p.G3309R

c.9925G>C

1 paper

NM_206933.4

p.G3309R

c.9925G>A

1 paper

NM_206933.4

p.G3320Splc

c.9958+8G>A