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

3 papers

NM_206933.4

p.G732_F735delFs

c.2194_2203del10

Surrounding Variants

1 paper

NM_206933.4

p.F735C

c.2204T>G

1 paper

NM_206933.4

p.L736F

c.2206C>T

1 paper

NM_206933.4

p.F733_K734del2

c.2197_2201del6

1 paper

NM_206933.4

p.L736P

c.2207T>C

42 papers

NM_206933.4

p.R737*

c.2209C>T

1 paper

NM_206933.4

p.F733C

c.2198T>G

1 paper

NM_206933.4

p.R737L

c.2210G>T

1 paper

NM_206933.4

p.R737Q

c.2210G>A

1 paper

NM_206933.4

p.S738G

c.2212A>G

1 paper

NM_206933.4

p.G732V

c.2195G>T

1 paper

NM_206933.4

p.G732E

c.2195G>A

2 papers

NM_206933.4

p.S738delFs

c.2212delT