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.K757R

c.2270A>G

Surrounding Variants

1 paper

NM_206933.4

p.K757I

c.2270A>T

2 papers

NM_206933.4

p.G753_K757delFs

c.2258_2270del13

1 paper

NM_206933.4

p.V755_N756delFs

c.2265_2266delTC

2 papers

NM_206933.4

p.N756Y

c.2266A>T

1 paper

NM_206933.4

p.S754_V755del2

c.2260_2264del6

1 paper

NM_206933.4

p.C759S

c.2275T>A

271 papers

NM_206933.4

p.C759F

c.2276G>T

1 paper

NM_206933.4

p.C759S

c.2276G>C

1 paper

NM_206933.4

p.S754S

c.2262A>T

1 paper

NM_206933.4

p.S754delFs

c.2260delA

1 paper

NM_206933.4

p.G753_S754delFs

c.2257_2260del4

2 papers

NM_206933.4

p.N760S

c.2279A>G