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.T530S

c.1588A>T

Surrounding Variants

1 paper

NM_206933.4

p.T530R

c.1589C>G

2 papers

NM_206933.4

p.T530insFs

c.1589_1590insG

1 paper

NM_206933.4

p.T529I

c.1586C>T

1 paper

NM_206933.4

p.T530fs

c.1588_1589fs

1 paper

NM_206933.4

p.T529_T530delFs

c.1586_1589del4

1 paper

NM_206933.4

p.S531fs

c.1591_1592fs

1 paper

NM_206933.4

p.T529A

c.1585A>G

2 papers

NM_206933.4

p.T529P

c.1585A>C

2 papers

NM_206933.4

p.S531_Q532insA

c.1591_1595ins3

1 paper

NM_206933.4

p.S531N

c.1592G>A

1 paper

NM_206933.4

p.D528insFs

c.1582_1583insT

2 papers

NM_206933.4

p.D528N

c.1582G>A