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.T890I

c.2669C>T

Surrounding Variants

1 paper

NM_206933.4

p.T890A

c.2668A>G

1 paper

NM_206933.4

p.I891V

c.2671A>G

1 paper

NM_206933.4

p.T890delFs

c.2670delG

1 paper

NM_206933.4

p.I891S

c.2672T>G

2 papers

NM_206933.4

p.I891T

c.2672T>C

1 paper

NM_206933.4

p.I891N

c.2672T>A

1 paper

NM_206933.4

p.L889*

c.2666T>A

1 paper

NM_206933.4

p.R886_L889del0

c.2657_2665del9

1 paper

NM_206933.4

p.I891fs

c.2671_2672fs

1 paper

NM_206933.4

p.L889L

c.2665T>C

1 paper

NM_206933.4

p.Y887*

c.2661C>G

2 papers

NM_206933.4

p.Y887*

c.2661C>A