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.C913S

c.2737T>A

Surrounding Variants

1 paper

NM_206933.4

p.C913S

c.2738G>C

1 paper

NM_206933.4

p.I912T

c.2735T>C

1 paper

NM_206933.4

p.I912fs

c.2734_2735fs

1 paper

NM_206933.4

p.T911delFs

c.2733delG

1 paper

NM_206933.4

p.T911fs

c.2731_2732fs

1 paper

NM_206933.4

p.T911I

c.2732C>T

3 papers

NM_206933.4

p.T911N

c.2732C>A

1 paper

NM_206933.4

p.P915S

c.2743C>T

2 papers

NM_206933.4

p.G910delFs

c.2730delC

1 paper

NM_206933.4

p.P915L

c.2744C>T

1 paper

NM_206933.4

p.I916V

c.2746A>G

1 paper

NM_206933.4

p.I916S

c.2747T>G