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

45 papers

NM_206933.4

p.R317R

c.949C>A

Surrounding Variants

2 papers

NM_206933.4

p.R317W

c.949C>T

2 papers

NM_206933.4

p.R317Q

c.950G>A

1 paper

NM_206933.4

p.R317_Y318insFs

c.951_952ins8

1 paper

NM_206933.4

p.R317insFs

c.951dupG

3 papers

NM_206933.4

p.A315_R317insFs

c.944_951dup8

4 papers

NM_206933.4

p.R317delFs

c.951delC

1 paper

NM_206933.4

p.Q316*

c.946C>T

8 papers

NM_206933.4

p.Y318fs

c.952_953fs

1 paper

NM_206933.4

p.Y318C

c.953A>G

3 papers

NM_206933.4

p.Y318fs

c.952_953fs

1 paper

NM_206933.4

p.A315_Y318del4

c.943_953del12

1 paper

NM_206933.4

p.A315T

c.943G>A