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.C780G

c.2338T>G

Surrounding Variants

1 paper

NM_206933.4

p.C780_R781ins4

c.2338_2342ins12

1 paper

NM_206933.4

p.C780S

c.2338T>A

2 papers

NM_206933.4

p.C780fs

c.2338_2339fs

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.C777_T779delFs

c.2330_2336del7

1 paper

NM_206933.4

p.T779N

c.2336C>A

2 papers

NM_206933.4

p.R781*

c.2341A>T

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.R781S

c.2343A>T

14 papers

NM_206933.4

p.D778Y

c.2332G>T