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.K2860R

c.8579A>G

Surrounding Variants

1 paper

NM_206933.4

p.R2859P

c.8576G>C

4 papers

NM_206933.4

p.R2859H

c.8576G>A

6 papers

NM_206933.4

p.R2859C

c.8575C>T

8 papers

NM_206933.4

p.Q2862*

c.8584C>T

1 paper

NM_206933.4

p.Q2862R

c.8585A>G

1 paper

NM_206933.4

p.R2858*

c.8572A>T

1 paper

NM_206933.4

p.L2865V

c.8593C>G

1 paper

NM_206933.4

p.A2866delFs

c.8598delT

2 papers

NM_206933.4

p.R2853I

c.8558G>T

1 paper

NM_206933.4

p.S2867L

c.8600C>T

6 papers

NM_206933.4

p.R2853*

c.8557A>T

101 papers

NM_206933.4

p.R2853Splc

c.8559-2A>G