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.C520fs

c.1558_1559fs

Surrounding Variants

1 paper

NM_206933.4

p.C520G

c.1558T>G

5 papers

NM_206933.4

p.C520R

c.1558T>C

1 paper

NM_206933.4

p.Q519H

c.1557G>C

1 paper

NM_206933.4

p.Q519Q

c.1557G>A

3 papers

NM_206933.4

p.C520delFs

c.1558delA

1 paper

NM_206933.4

p.C520C

c.1560C>T

4 papers

NM_206933.4

p.C520*

c.1560C>A

1 paper

NM_206933.4

p.Q519R

c.1556A>G

2 papers

NM_206933.4

p.Q519*

c.1555C>T

1 paper

NM_206933.4

p.H521Y

c.1561C>T

1 paper

NM_206933.4

p.H521insFs

c.1563dupT

1 paper

NM_206933.4

p.H521delFs

c.1563delA