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

271 papers

NM_206933.4

p.C759F

c.2276G>T

Surrounding Variants

1 paper

NM_206933.4

p.C759S

c.2276G>C

1 paper

NM_206933.4

p.C759S

c.2275T>A

2 papers

NM_206933.4

p.N760S

c.2279A>G

2 papers

NM_206933.4

p.G753_K757delFs

c.2258_2270del13

6 papers

NM_206933.4

p.P761R

c.2282C>G

1 paper

NM_206933.4

p.K757I

c.2270A>T

1 paper

NM_206933.4

p.K757R

c.2270A>G

3 papers

NM_206933.4

p.H762Y

c.2284C>T

1 paper

NM_206933.4

p.H762_S763insGA

c.2284_2288ins6

1 paper

NM_206933.4

p.P761_H762delFs

c.2283_2284delGA

1 paper

NM_206933.4

p.V755_N756delFs

c.2265_2266delTC

2 papers

NM_206933.4

p.N756Y

c.2266A>T