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.N820S

c.2459A>G

Surrounding Variants

1 paper

NM_206933.4

p.N820D

c.2458A>G

1 paper

NM_206933.4

p.V821I

c.2461G>A

1 paper

NM_206933.4

p.V821A

c.2462T>C

1 paper

NM_206933.4

p.G823R

c.2467G>C

1 paper

NM_206933.4

p.G823R

c.2467G>A

1 paper

NM_206933.4

p.G823E

c.2468G>A

1 paper

NM_206933.4

p.K811_I816del6

c.2431_2447del18

1 paper

NM_206933.4

p.G823delFs

c.2468_2469delCC

1 paper

NM_206933.4

p.R824K

c.2471G>A

1 paper

NM_206933.4

p.R824S

c.2472A>T

1 paper

NM_206933.4

p.I816V

c.2446A>G

1 paper

NM_206933.4

p.R824S

c.2472A>C