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.R878L

c.2633G>T

Surrounding Variants

1 paper

NM_206933.4

p.R878P

c.2633G>C

7 papers

NM_206933.4

p.R878H

c.2633G>A

1 paper

NM_206933.4

p.R878C

c.2632C>T

1 paper

NM_206933.4

p.L877delFs

c.2630delA

1 paper

NM_206933.4

p.G866_C879del14

c.2596_2636del42

1 paper

NM_206933.4

p.G876D

c.2627G>A

1 paper

NM_206933.4

p.G876fs

c.2626_2627fs

1 paper

NM_206933.4

p.G876ins1

c.2626_2627insTTT

1 paper

NM_206933.4

p.T875insFs

c.2625dupA

1 paper

NM_206933.4

p.Q881P

c.2642A>C

1 paper

NM_206933.4

p.V874E

c.2621T>A

1 paper

NM_206933.4

p.V874I

c.2620G>A