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.N893K

c.2679T>A

Surrounding Variants

1 paper

NM_206933.4

p.N893K

c.2679T>G

1 paper

NM_206933.4

p.F894V

c.2680T>G

1 paper

NM_206933.4

p.F894C

c.2681T>G

1 paper

NM_206933.4

p.N893_F894insTCG

c.2677_2681ins9

1 paper

NM_206933.4

p.I891fs

c.2671_2672fs

1 paper

NM_206933.4

p.I891S

c.2672T>G

2 papers

NM_206933.4

p.I891T

c.2672T>C

1 paper

NM_206933.4

p.I891N

c.2672T>A

1 paper

NM_206933.4

p.H896Y

c.2686C>T

1 paper

NM_206933.4

p.I891V

c.2671A>G

1 paper

NM_206933.4

p.T890delFs

c.2670delG

1 paper

NM_206933.4

p.T890I

c.2669C>T