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

2 papers

NM_206933.4

p.D525_N526del2

c.1573_1577del6

Surrounding Variants

1 paper

NM_206933.4

p.C527R

c.1579T>C

1 paper

NM_206933.4

p.C527F

c.1580G>T

1 paper

NM_206933.4

p.C527Y

c.1580G>A

1 paper

NM_206933.4

p.C527C

c.1581C>T

1 paper

NM_206933.4

p.C527W

c.1581C>G

1 paper

NM_206933.4

p.D528insFs

c.1582_1583insT

2 papers

NM_206933.4

p.D528N

c.1582G>A

1 paper

NM_206933.4

p.D525E

c.1575T>A

1 paper

NM_206933.4

p.D525Y

c.1573G>T

1 paper

NM_206933.4

p.D525N

c.1573G>A

1 paper

NM_206933.4

p.T529A

c.1585A>G

2 papers

NM_206933.4

p.T529P

c.1585A>C