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.R3297K

c.9890G>A

Surrounding Variants

2 papers

NM_206933.4

p.C3295W

c.9885T>G

1 paper

NM_206933.4

p.C3295F

c.9884G>T

14 papers

NM_206933.4

p.C3294W

c.9882C>G

2 papers

NM_206933.4

p.C3294S

c.9881G>C

2 papers

NM_206933.4

p.C3294S

c.9880T>A

1 paper

NM_206933.4

p.K3293delFs

c.9878delT

1 paper

NM_206933.4

p.S3301fs

c.9901_9902fs

1 paper

NM_206933.4

p.K3293fs

c.9877_9878fs

1 paper

NM_206933.4

p.K3293E

c.9877A>G

1 paper

NM_206933.4

p.V3300_S3301del2

c.9898_9902del6

2 papers

NM_206933.4

p.Q3292*

c.9874C>T

1 paper

NM_206933.4

p.N3302N

c.9906C>T