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

4 papers

NM_206933.4

p.Y3565*

c.10695T>A

Surrounding Variants

4 papers

NM_206933.4

p.Y3565*

c.10695T>G

8 papers

NM_206933.4

p.L3567delFs

c.10699delG

2 papers

NM_206933.4

p.Y3563*

c.10689T>G

2 papers

NM_206933.4

p.Y3563*

c.10689T>A

11 papers

NM_206933.4

p.E3562*

c.10684G>T

3 papers

NM_206933.4

p.C3570F

c.10709G>T

62 papers

NM_206933.4

p.T3571M

c.10712C>T

1 paper

NM_206933.4

p.P3559P

c.10677A>G

2 papers

NM_206933.4

p.Y3565_T3571del7

c.10693_10712del21

1 paper

NM_206933.4

p.I3557T

c.10670T>C

3 papers

NM_206933.4

p.G3574V

c.10721G>T

2 papers

NM_206933.4

p.C3575F

c.10724G>T