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.H523Q

c.1569T>A

Surrounding Variants

1 paper

NM_206933.4

p.H523Q

c.1569T>G

3 papers

NM_206933.4

p.A524T

c.1570G>A

1 paper

NM_206933.4

p.H523insFs

c.1567dupC

3 papers

NM_206933.4

p.A524V

c.1571C>T

2 papers

NM_206933.4

p.H523Y

c.1567C>T

4 papers

NM_206933.4

p.A524D

c.1571C>A

1 paper

NM_206933.4

p.A524A

c.1572C>T

1 paper

NM_206933.4

p.D525Y

c.1573G>T

2 papers

NM_206933.4

p.G522D

c.1565G>A

1 paper

NM_206933.4

p.D525N

c.1573G>A

1 paper

NM_206933.4

p.H521insFs

c.1563dupT

1 paper

NM_206933.4

p.H521delFs

c.1563delA