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

49 papers

NM_206933.4

p.R626*

c.1876C>T

Surrounding Variants

1 paper

NM_206933.4

p.R626insFs

c.1877_1878ins4

1 paper

NM_206933.4

p.R626P

c.1877G>C

10 papers

NM_206933.4

p.R626Q

c.1877G>A

1 paper

NM_206933.4

p.F624_F625delFs

c.1872_1873delAA

4 papers

NM_206933.4

p.Q627*

c.1879C>T

1 paper

NM_206933.4

p.Q627R

c.1880A>G

1 paper

NM_206933.4

p.V628L

c.1882G>C

1 paper

NM_206933.4

p.V628A

c.1883T>C

1 paper

NM_206933.4

p.Y623delFs

c.1868delT

1 paper

NM_206933.4

p.V628V

c.1884T>G

1 paper

NM_206933.4

p.Y623N

c.1867T>A

1 paper

NM_206933.4

p.G629S

c.1885G>A