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.M3926I

c.11778G>T

Surrounding Variants

1 paper

NM_206933.4

p.M3926I

c.11778G>C

7 papers

NM_206933.4

p.M3926I

c.11778G>A

2 papers

NM_206933.4

p.D3927G

c.11780A>G

1 paper

NM_206933.4

p.E3924K

c.11770G>A

1 paper

NM_206933.4

p.G3929G

c.11787A>G

1 paper

NM_206933.4

p.L3923V

c.11767C>G

1 paper

NM_206933.4

p.G3921_G3929delFs

c.11762_11787del26

1 paper

NM_206933.4

p.A3922fs

c.11764_11765fs

1 paper

NM_206933.4

p.G3921G

c.11763A>T

1 paper

NM_206933.4

p.G3921A

c.11762G>C

1 paper

NM_206933.4

p.L3932R

c.11795T>G

13 papers

NM_206933.4

p.W3918*

c.11754G>A