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.F842_L843delFs

c.2526_2527delGG

Surrounding Variants

1 paper

NM_206933.4

p.L843fs

c.2527_2528fs

1 paper

NM_206933.4

p.C844R

c.2530T>C

1 paper

NM_206933.4

p.C844S

c.2530T>A

1 paper

NM_206933.4

p.F842F

c.2526C>T

2 papers

NM_206933.4

p.F842insFs

c.2525dupT

1 paper

NM_206933.4

p.F842fs

c.2524_2525fs

1 paper

NM_206933.4

p.C844S

c.2531G>C

3 papers

NM_206933.4

p.C844Y

c.2531G>A

1 paper

NM_206933.4

p.L845M

c.2533C>A

1 paper

NM_206933.4

p.L845P

c.2534T>C

2 papers

NM_206933.4

p.S841insFs

c.2522_2523insA

32 papers

NM_206933.4

p.S841Y

c.2522C>A