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

21 papers

NM_206933.4

p.D644V

c.1931A>T

Surrounding Variants

1 paper

NM_206933.4

p.C643_D644delFs

c.1929_1930delCA

1 paper

NM_206933.4

p.D644Y

c.1930G>T

1 paper

NM_206933.4

p.C643insFs

c.1929dupT

1 paper

NM_206933.4

p.C643*

c.1929T>A

1 paper

NM_206933.4

p.T645R

c.1934C>G

1 paper

NM_206933.4

p.D642insFs

c.1926dupC

1 paper

NM_206933.4

p.C643fs

c.1927_1928fs

6 papers

NM_206933.4

p.T645T

c.1935A>T

2 papers

NM_206933.4

p.C643_T645delFs

c.1927_1934del8

2 papers

NM_206933.4

p.V646F

c.1936G>T

2 papers

NM_206933.4

p.V646A

c.1937T>C

1 paper

NM_206933.4

p.D642H

c.1924G>C