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.R3543H

c.10628G>A

Surrounding Variants

1 paper

NM_206933.4

p.R3543S

c.10627C>A

2 papers

NM_206933.4

p.E3542delFs

c.10626delT

1 paper

NM_206933.4

p.F3544_R3545insA

c.10630_10634ins3

1 paper

NM_206933.4

p.E3542Q

c.10624G>C

1 paper

NM_206933.4

p.E3542fs

c.10624_10625fs

3 papers

NM_206933.4

p.R3545W

c.10633C>T

3 papers

NM_206933.4

p.R3545Q

c.10634G>A

2 papers

NM_206933.4

p.G3546*

c.10636G>T

12 papers

NM_206933.4

p.G3546R

c.10636G>C

12 papers

NM_206933.4

p.G3546R

c.10636G>A

1 paper

NM_206933.4

p.G3546E

c.10637G>A

1 paper

NM_206933.4

p.R3538Fs

c.10614delinsTCAAAFs