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.C3306W

c.9918T>G

Surrounding Variants

2 papers

NM_206933.4

p.C3307S

c.9919T>A

1 paper

NM_206933.4

p.E3305delFs

c.9914_9915delCT

2 papers

NM_206933.4

p.C3307S

c.9920G>C

2 papers

NM_206933.4

p.C3307Y

c.9920G>A

7 papers

NM_206933.4

p.C3307W

c.9921T>G

8 papers

NM_206933.4

p.E3305D

c.9915G>T

1 paper

NM_206933.4

p.E3305fs

c.9913_9914fs

9 papers

NM_206933.4

p.E3305D

c.9915G>C

1 paper

NM_206933.4

p.G3308S

c.9922G>A

3 papers

NM_206933.4

p.L3304insFs

c.9912dupA

2 papers

NM_206933.4

p.E3305fs

c.9913_9914fs

1 paper

NM_206933.4

p.G3309R

c.9925G>C