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

5 papers

NM_206933.4

p.E1918K

c.5752G>A

Surrounding Variants

1 paper

NM_206933.4

p.E1918*

c.5752G>T

2 papers

NM_206933.4

p.Y1917Y

c.5751C>T

2 papers

NM_206933.4

p.Y1917*

c.5751C>G

2 papers

NM_206933.4

p.Y1917*

c.5751C>A

1 paper

NM_206933.4

p.E1918G

c.5753A>G

1 paper

NM_206933.4

p.Y1917fs

c.5749_5750fs

1 paper

NM_206933.4

p.G1919D

c.5756G>A

1 paper

NM_206933.4

p.Q1922*

c.5764C>T

1 paper

NM_206933.4

p.Q1914*

c.5740C>T

1 paper

NM_206933.4

p.Q1914K

c.5740C>A

1 paper

NM_206933.4

p.E1913*

c.5737G>T

2 papers

NM_206933.4

p.K1912delFs

c.5735_5736delTT