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.F273L

c.819T>A

Surrounding Variants

7 papers

NM_206933.4

p.R274*

c.820C>T

3 papers

NM_206933.4

p.R274G

c.820C>G

2 papers

NM_206933.4

p.R274fs

c.820_821fs

1 paper

NM_206933.4

p.Q271_D272del0

c.811_816del6

2 papers

NM_206933.4

p.R274L

c.821G>T

3 papers

NM_206933.4

p.R274Q

c.821G>A

1 paper

NM_206933.4

p.R274delFs

c.820delG

1 paper

NM_206933.4

p.R274fs

c.820_821fs

1 paper

NM_206933.4

p.D272Y

c.814G>T

2 papers

NM_206933.4

p.D272N

c.814G>A

1 paper

NM_206933.4

p.Q271Q

c.813A>G

3 papers

NM_206933.4

p.R269_M270delFs

c.806_810del5