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

6 papers

NM_206933.4

p.Y3998*

c.11994C>A

Surrounding Variants

6 papers

NM_206933.4

p.Y3998*

c.11994C>G

1 paper

NM_206933.4

p.I3995M

c.11985C>G

1 paper

NM_206933.4

p.Y4002C

c.12005A>G

6 papers

NM_206933.4

p.Y4002*

c.12006C>G

7 papers

NM_206933.4

p.Y4002*

c.12006C>A

1 paper

NM_206933.4

p.Q4003K

c.12007C>A

1 paper

NM_206933.4

p.G3993D

c.11978G>A

1 paper

NM_206933.4

p.G3993C

c.11977G>T

1 paper

NM_206933.4

p.N3992S

c.11975A>G

1 paper

NM_206933.4

p.D4008N

c.12022G>A

1 paper

NM_206933.4

p.P4009T

c.12025C>A

1 paper

NM_206933.4

p.D4007_D4008del2

c.12019_12023del6