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.R781S

c.2343A>T

Surrounding Variants

1 paper

NM_206933.4

p.E782*

c.2344G>T

1 paper

NM_206933.4

p.T779_E782delins

c.2337_2344delinsAC

1 paper

NM_206933.4

p.C780_R781delFs

c.2340_2341delTG

5 papers

NM_206933.4

p.T779_R781Fs

c.2337_2342delinsACFs

1 paper

NM_206933.4

p.E782fs

c.2344_2345fs

2 papers

NM_206933.4

p.R781*

c.2341A>T

1 paper

NM_206933.4

p.E782V

c.2345A>T

1 paper

NM_206933.4

p.E782delFs

c.2344delC

2 papers

NM_206933.4

p.C780F

c.2339G>T

1 paper

NM_206933.4

p.C780S

c.2339G>C

1 paper

NM_206933.4

p.N783fs

c.2347_2348fs

1 paper

NM_206933.4

p.C780_R781ins4

c.2338_2342ins12