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.T812R

c.2435C>G

Surrounding Variants

3 papers

NM_206933.4

p.T812I

c.2435C>T

1 paper

NM_206933.4

p.T812A

c.2434A>G

1 paper

NM_206933.4

p.T812fs

c.2434_2435fs

5 papers

NM_206933.4

p.K811fs

c.2431_2432fs

9 papers

NM_206933.4

p.K811delFs

c.2431_2432delTT

3 papers

NM_206933.4

p.T806_A810del5

c.2416_2429del15

5 papers

NM_206933.4

p.K811fs

c.2431_2432fs

3 papers

NM_206933.4

p.K811*

c.2431A>T

4 papers

NM_206933.4

p.Q814*

c.2440C>T

1 paper

NM_206933.4

p.G813delFs

c.2439delC

1 paper

NM_206933.4

p.A810G

c.2429C>G

2 papers

NM_206933.4

p.N809delFs

c.2426_2427delAT