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.D4208D

c.12624C>T

Surrounding Variants

2 papers

NM_206933.4

p.D4208E

c.12624C>G

2 papers

NM_206933.4

p.D4208E

c.12624C>A

1 paper

NM_206933.4

p.D4208N

c.12622G>A

16 papers

NM_206933.4

p.T4204T

c.12612A>G

4 papers

NM_206933.4

p.T4204I

c.12611C>T

8 papers

NM_206933.4

p.Q4203R

c.12608A>G

1 paper

NM_206933.4

p.Q4203*

c.12607C>T

1 paper

NM_206933.4

p.G4201delFs

c.12602delC

1 paper

NM_206933.4

p.W4200G

c.12598T>G

1 paper

NM_206933.4

p.A4199A

c.12597T>C

1 paper

NM_206933.4

p.G4197E

c.12590G>A

1 paper

NM_206933.4

p.G4197R

c.12589G>C