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.G3320Splc

c.9959-3C>G

Surrounding Variants

19 papers

NM_206933.4

p.G3320C

c.9958G>T

2 papers

NM_206933.4

p.G3320Splc

c.9959-1G>C

1 paper

NM_206933.4

p.G3320D

c.9959G>A

3 papers

NM_206933.4

p.M3321fs

c.9961_9962fs

1 paper

NM_206933.4

p.G3320Splc

c.9959-11T>G

1 paper

NM_206933.4

p.F3322fs

c.9964_9965fs

1 paper

NM_206933.4

p.C3323G

c.9967T>G

1 paper

NM_206933.4

p.F3322_C3323delFs

c.9966_9967delAG

1 paper

NM_206933.4

p.C3324*

c.9972T>A

1 paper

NM_206933.4

p.G3325A

c.9974G>C

1 paper

NM_206933.4

p.G3325E

c.9974G>A

2 papers

NM_206933.4

p.G3325G

c.9975G>A