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

4 papers

NM_206933.4

p.Y276*

c.828C>G

Surrounding Variants

4 papers

NM_206933.4

p.Y276*

c.828C>A

2 papers

NM_206933.4

p.Y276C

c.827A>G

1 paper

NM_206933.4

p.F273_Y276delFs

c.819_826del8

1 paper

NM_206933.4

p.V278delins

c.832_833delinsTT

1 paper

NM_206933.4

p.V278A

c.833T>C

1 paper

NM_206933.4

p.V278V

c.834G>A

1 paper

NM_206933.4

p.R274fs

c.820_821fs

2 papers

NM_206933.4

p.R274L

c.821G>T

1 paper

NM_206933.4

p.A279P

c.835G>C

3 papers

NM_206933.4

p.R274Q

c.821G>A

1 paper

NM_206933.4

p.A279T

c.835G>A

1 paper

NM_206933.4

p.R274delFs

c.820delG