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

2 papers

NM_206933.4

p.I285T

c.854T>C

Surrounding Variants

1 paper

NM_206933.4

p.I285S

c.854T>G

1 paper

NM_206933.4

p.E284_I285delFs

c.852_853delTC

1 paper

NM_206933.4

p.E284_I285delFs

c.850_853del4

3 papers

NM_206933.4

p.E284fs

c.850_851fs

2 papers

NM_206933.4

p.L286P

c.857T>C

1 paper

NM_206933.4

p.L286Q

c.857T>A

1 paper

NM_206933.4

p.E284G

c.851A>G

1 paper

NM_206933.4

p.E284Q

c.850G>C

5 papers

NM_206933.4

p.E284K

c.850G>A

1 paper

NM_206933.4

p.E284fs

c.850_851fs

2 papers

NM_206933.4

p.E287*

c.859G>T

1 paper

NM_206933.4

p.R283Splc

c.849-1G>A