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

4 papers

NM_206933.4

p.H548_C549Splc

c.1644+1G>A

Surrounding Variants

1 paper

NM_206933.4

p.H548del1

c.1642_1643delATG

1 paper

NM_206933.4

p.F543_H548delFs

c.1629_1644del16

1 paper

NM_206933.4

p.H548Q

c.1644T>G

1 paper

NM_206933.4

p.H548Q

c.1644T>A

1 paper

NM_206933.4

p.H548Y

c.1642C>T

5 papers

NM_206933.4

p.H548_C549Splc

c.1644+4A>G

1 paper

NM_206933.4

p.L547fs

c.1639_1640fs

1 paper

NM_206933.4

p.L547F

c.1639C>T

1 paper

NM_206933.4

p.T544_G546insFs

c.1632_1638dup7

2 papers

NM_206933.4

p.E545_G546del2

c.1633_1637del6

1 paper

NM_206933.4

p.G546A

c.1637G>C

1 paper

NM_206933.4

p.G546R

c.1636G>C