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.D622G

c.1865A>G

Surrounding Variants

1 paper

NM_206933.4

p.Y623N

c.1867T>A

1 paper

NM_206933.4

p.Y623fs

c.1867_1868fs

1 paper

NM_206933.4

p.Y623delFs

c.1868delT

1 paper

NM_206933.4

p.K621*

c.1861A>T

1 paper

NM_206933.4

p.C620*

c.1860C>A

1 paper

NM_206933.4

p.L619delFs

c.1856_1857delCA

18 papers

NM_206933.4

p.C620F

c.1859G>T

3 papers

NM_206933.4

p.C620Y

c.1859G>A

1 paper

NM_206933.4

p.L619P

c.1856T>C

1 paper

NM_206933.4

p.F624_F625delFs

c.1872_1873delAA

49 papers

NM_206933.4

p.R626*

c.1876C>T

1 paper

NM_206933.4

p.R626insFs

c.1877_1878ins4