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.K3707N

c.11121G>C

Surrounding Variants

1 paper

NM_206933.4

p.K3707N

c.11121G>T

2 papers

NM_206933.4

p.P3708L

c.11123C>T

1 paper

NM_206933.4

p.G3710D

c.11129G>A

1 paper

NM_206933.4

p.L3704L

c.11112G>T

1 paper

NM_206933.4

p.V3712I

c.11134G>A

10 papers

NM_206933.4

p.W3702*

c.11106G>A

10 papers

NM_206933.4

p.W3702*

c.11105G>A

3 papers

NM_206933.4

p.V3712_S3713delFs

c.11136_11137delAA

2 papers

NM_206933.4

p.Y3701*

c.11103T>G

2 papers

NM_206933.4

p.Y3701*

c.11103T>A

3 papers

NM_206933.4

p.Q3714*

c.11140C>T

1 paper

NM_206933.4

p.Q3714Q

c.11142A>G