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

2 papers

NM_206933.4

p.N2651fs

c.7951_7952fs

Surrounding Variants

4 papers

NM_206933.4

p.N2651D

c.7951A>G

2 papers

NM_206933.4

p.P2650insFs

c.7950dupC

1 paper

NM_206933.4

p.P2650_N2651insFs

c.7950_7951insG

1 paper

NM_206933.4

p.N2651S

c.7952A>G

1 paper

NM_206933.4

p.N2651T

c.7952A>C

2 papers

NM_206933.4

p.N2651fs

c.7951_7952fs

1 paper

NM_206933.4

p.P2650R

c.7949C>G

1 paper

NM_206933.4

p.P2650S

c.7948C>T

1 paper

NM_206933.4

p.T2648delFs

c.7943delG

1 paper

NM_206933.4

p.T2648P

c.7942A>C

1 paper

NM_206933.4

p.P2647P

c.7941T>G

1 paper

NM_206933.4

p.P2647delFs

c.7940delG