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.L3961V

c.11881C>G

Surrounding Variants

1 paper

NM_206933.4

p.T3960P

c.11878A>C

3 papers

NM_206933.4

p.Q3959fs

c.11875_11876fs

9 papers

NM_206933.4

p.Q3959delFs

c.11875_11876delTG

2 papers

NM_206933.4

p.Q3959delFs

c.11875delG

1 paper

NM_206933.4

p.Q3959*

c.11875C>T

3 papers

NM_206933.4

p.Q3959fs

c.11875_11876fs

1 paper

NM_206933.4

p.A3963A

c.11889T>C

1 paper

NM_206933.4

p.P3965L

c.11894C>T

2 papers

NM_206933.4

p.S3956*

c.11867C>G

2 papers

NM_206933.4

p.S3956*

c.11867C>A

1 paper

NM_206933.4

p.P3965delFs

c.11895delA

1 paper

NM_206933.4

p.Q3966fs

c.11896_11897fs