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.P533_Y534delFs

c.1598_1601del4

Surrounding Variants

1 paper

NM_206933.4

p.R535*

c.1603A>T

2 papers

NM_206933.4

p.Y534C

c.1601A>G

1 paper

NM_206933.4

p.R535G

c.1603A>G

1 paper

NM_206933.4

p.Y534_R535insGG

c.1600_1604ins6

1 paper

NM_206933.4

p.Y534_R535ins13

c.1600_1604ins39

1 paper

NM_206933.4

p.Y534H

c.1600T>C

4 papers

NM_206933.4

p.R535T

c.1604G>C

1 paper

NM_206933.4

p.R535S

c.1605A>T

1 paper

NM_206933.4

p.P533P

c.1599A>T

50 papers

NM_206933.4

p.C536R

c.1606T>C

4 papers

NM_206933.4

p.C536S

c.1606T>A

1 paper

NM_206933.4

p.P533L

c.1598C>T