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.Y4128C

c.12383A>G

Surrounding Variants

3 papers

NM_206933.4

p.L4127_Y4128delFs

c.12381_12382delAG

2 papers

NM_206933.4

p.Y4128fs

c.12382_12383fs

1 paper

NM_206933.4

p.L4127fs

c.12379_12380fs

1 paper

NM_206933.4

p.L4130fs

c.12388_12389fs

2 papers

NM_206933.4

p.L4130delFs

c.12388delG

1 paper

NM_206933.4

p.F4125fs

c.12373_12374fs

1 paper

NM_206933.4

p.F4125insFs

c.12374_12375insAT

2 papers

NM_206933.4

p.L4132fs

c.12394_12395fs

2 papers

NM_206933.4

p.L4132delFs

c.12394delG

2 papers

NM_206933.4

p.P4124L

c.12371C>T

2 papers

NM_206933.4

p.P4124R

c.12371C>G

1 paper

NM_206933.4

p.L4132fs

c.12394_12395fs