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.C829Y

c.2486G>A

Surrounding Variants

1 paper

NM_206933.4

p.C829*

c.2487T>A

1 paper

NM_206933.4

p.K828delFs

c.2484delT

1 paper

NM_206933.4

p.K828N

c.2484A>T

1 paper

NM_206933.4

p.L830ins4

c.2489_2490ins12

1 paper

NM_206933.4

p.E831*

c.2491G>T

1 paper

NM_206933.4

p.E831Q

c.2491G>C

1 paper

NM_206933.4

p.E831V

c.2492A>T

1 paper

NM_206933.4

p.R824_C826del0

c.2470_2478del9

1 paper

NM_206933.4

p.N827D

c.2479A>G

1 paper

NM_206933.4

p.P819_C826del8

c.2455_2477del24

1 paper

NM_206933.4

p.C826*

c.2478C>A

1 paper

NM_206933.4

p.E831_G832delins

c.2493_2495delinsGGC