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

3 papers

NM_206933.4

p.Y4110D

c.12328T>G

Surrounding Variants

4 papers

NM_206933.4

p.S4111F

c.12332C>T

1 paper

NM_206933.4

p.G4112D

c.12335G>A

1 paper

NM_206933.4

p.D4105_F4107delFs

c.12313_12319del7

1 paper

NM_206933.4

p.S4104_G4106del3

c.12310_12317del9

1 paper

NM_206933.4

p.G4106G

c.12318G>A

1 paper

NM_206933.4

p.G4106R

c.12316G>C

1 paper

NM_206933.4

p.G4106R

c.12316G>A

1 paper

NM_206933.4

p.D4105D

c.12315C>T

20 papers

NM_206933.4

p.R4115C

c.12343C>T

1 paper

NM_206933.4

p.D4105fs

c.12313_12314fs

7 papers

NM_206933.4

p.R4115H

c.12344G>A

1 paper

NM_206933.4

p.S4104C

c.12310A>T