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.Q657H

c.1971G>T

Surrounding Variants

1 paper

NM_206933.4

p.Q657H

c.1971G>C

1 paper

NM_206933.4

p.C641_Q657Fs

c.1923_1971delinsTCTGGGTAFs

1 paper

NM_206933.4

p.C641_Q657Fs

c.1923_1969delinsTCTGGGFs

5 papers

NM_206933.4

p.D656N

c.1966G>A

5 papers

NM_206933.4

p.C655delFs

c.1965delA

1 paper

NM_206933.4

p.S652_C655del4

c.1954_1964del12

2 papers

NM_206933.4

p.C655fs

c.1963_1964fs

3 papers

NM_206933.4

p.C655W

c.1965T>G

1 paper

NM_206933.4

p.C655C

c.1965T>C

1 paper

NM_206933.4

p.C655R

c.1963T>C

1 paper

NM_206933.4

p.C655fs

c.1963_1964fs

1 paper

NM_206933.4

p.L654L

c.1962T>A